1240 lines
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248 KiB
XML
1240 lines
No EOL
248 KiB
XML
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<h1 class="res_name"><a href="/snp">dbSNP</a></h1>
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<p class="res_tagline">Database of short genetic variations</p>
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<!-- SearchBar -->
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="snp" selected="selected">SNP</option><option value="nuccore">Nucleotide</option><option value="gene">Gene</option><option value="books" class="last">Books</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search SNP" value=""TSC-CSHL"[Handle]" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="isEnabled:false,disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=snp&qk=5350" id="SaveSearch">Create alert</a></li><li><a href="/snp/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/snp/docs/entrez_help/">Help</a></li></ul></div>
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<input name="EntrezSystem2.PEntrez.Snp.Entrez_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
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<div id="faceted_search" class="col two_col">
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<h2 class="offscreen_noflow">Result Filters</h2>
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<div class="facet_cont" data-db="snp" data-default_grps="fg_ClinicalSNP,fg_validation,fg_Publication,fg_Function_Class,fg_SnpClass,fg_Annotation,fg_GLOBALMAF" data-sd="db:'snp',op:'search',term:'%22TSC-CSHL%22%5BHandle%5D',qk:'5350',linkname:'',idsfromresult:'',extra:''"><ul class="facet" data-filter_id="ClinicalSNP" id="_ClinicalSNP" data-bm="yes"><li class="filter_grp "><div class="clearfix"><h3>Clinical Significance</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="affects">affects</a></li><li class="fil_val"><a href="#" data-value_id="non pathogenic">benign</a></li><li class="fil_val"><a href="#" data-value_id="conflicting_interpretations_of_pathogenicity">conflicting interpretations of pathogenicity</a></li><li class="fil_val"><a href="#" data-value_id="drug_response">drug response</a></li><li class="fil_val"><a href="#" data-value_id="probable non pathogenic">likely benign</a></li><li class="fil_val"><a href="#" data-value_id="probable_pathogenic_snp">likely pathogenic</a></li><li class="fil_val"><a href="#" data-value_id="other clinial category">other</a></li><li class="fil_val"><a href="#" data-value_id="pathogenic_snp">pathogenic</a></li><li class="fil_val"><a href="#" data-value_id="pathogenic_likely_pathogenic">pathogenic likely pathogenic</a></li><li class="fil_val"><a href="#" data-value_id="protective">protective</a></li><li class="fil_val"><a href="#" data-value_id="risk_factor">risk factor</a></li></ul></li></ul><ul class="facet" data-filter_id="validation" id="_validation"><li class="filter_grp "><div class="clearfix"><h3>Validation Status</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="Validated_by_alfa">by-ALFA</a></li><li class="fil_val"><a href="#" data-value_id="Validated_by_cluster">by-cluster</a></li><li class="fil_val"><a href="#" data-value_id="Validated_by_frequency">by-frequency</a></li></ul></li></ul><ul class="facet" data-filter_id="Publication" id="_Publication" data-bm="yes"><li class="filter_grp "><div class="clearfix"><h3>Publication</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="snp pubmed_cited">PubMed Cited</a></li><li class="fil_val"><a href="#" data-value_id="snp pubmed">PubMed Linked</a></li></ul></li></ul><ul class="facet" data-filter_id="Function_Class" id="_Function_Class" data-bm="yes"><li class="filter_grp "><div class="clearfix"><h3>Function Class</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="inframe_deletion">inframe deletion</a></li><li class="fil_val"><a href="#" data-value_id="inframe_indel">inframe indel</a></li><li class="fil_val"><a href="#" data-value_id="inframe_insertion">inframe insertion</a></li><li class="fil_val"><a href="#" data-value_id="initiator_codon_variant">initiator codon variant</a></li><li class="fil_val"><a href="#" data-value_id="intron_snp">intron</a></li><li class="fil_val"><a href="#" data-value_id="missense_snp">missense</a></li><li class="fil_val"><a href="#" data-value_id="non_coding_transcript_variant">non coding transcript variant</a></li><li class="fil_val"><a href="#" data-value_id="coding_synonymous_snp">synonymous</a></li></ul></li></ul><ul class="facet" data-filter_id="SnpClass" id="_SnpClass"><li class="filter_grp "><div class="clearfix"><h3>Variation Class</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="del_var">del</a></li><li class="fil_val"><a href="#" data-value_id="delins_var">delins</a></li><li class="fil_val"><a href="#" data-value_id="ins_var">ins</a></li><li class="fil_val"><a href="#" data-value_id="mnp_var">mnv</a></li></ul></li></ul><ul class="facet" data-filter_id="Annotation" id="_Annotation"><li class="filter_grp "><div class="clearfix"><h3>Annotation</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="snp_somatic">somatic</a></li></ul></li></ul><ul class="facet" data-filter_id="GLOBALMAF" data-rs="yes" id="_GLOBALMAF"><li class="filter_grp"><div class="clearfix"><h3>Global MAF</h3><a href="#" data-value_id="" class="clear clear_hide">clear</a></div><ul><li class="facetrange"><a id="facet_rangeGLOBALMAF" href="#facet_range_divGLOBALMAF" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'">
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Custom range...</a></li><div id="facet_range_divGLOBALMAF" style="display:none;" class="facets_dialog" data-vre="^(1\.0?|0\.\d{1,4})(\s*)?$" data-vf=" 			function(v){ 			var maf = v.match(/^(1\.0?|0\.\d{1,4})(\s*)$/); 			return maf[1]; 			} 		"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Custom range</h4><div><label class="offscreen_noflow" for="facet_range_stGLOBALMAF">Start Value</label><input type="text" id="facet_range_stGLOBALMAF" value="" placeholder="" /><span>to</span><label class="offscreen_noflow" for="facet_range_endGLOBALMAF">End Value</label><input type="text" id="facet_range_endGLOBALMAF" value="" placeholder="" /></div><div class="of_hint">Example: 0.01 to 0.1</div><div class="actions clearfix"><button class="jig-ncbibutton primary-action btn_range_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'" id="facet_range_applyGLOBALMAF">Apply</button><button class="jig-ncbibutton secondary-action btn_range_clear" data-jigconfig="'color': 'ui-ncbibutton-gray'" id="facet_range_clearGLOBALMAF">Clear</button></div></div></ul></li></ul><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
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Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_ClinicalSNP" /><label for="fg_ClinicalSNP">Clinical Significance</label></li><li><input type="checkbox" id="fg_validation" /><label for="fg_validation">Validation Status</label></li><li><input type="checkbox" id="fg_Publication" /><label for="fg_Publication">Publication</label></li><li><input type="checkbox" id="fg_Function_Class" /><label for="fg_Function_Class">Function Class</label></li><li><input type="checkbox" id="fg_SnpClass" /><label for="fg_SnpClass">Variation Class</label></li><li><input type="checkbox" id="fg_Annotation" /><label for="fg_Annotation">Annotation</label></li><li><input type="checkbox" id="fg_GLOBALMAF" /><label for="fg_GLOBALMAF">Global MAF</label></li><li><input type="checkbox" id="fg_chr" /><label for="fg_chr">Chromosomes</label></li><li><input type="checkbox" id="fg_CHRPOS" /><label for="fg_CHRPOS">Chromosome Range</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.Snp.Snp_Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=" /><input name="EntrezSystem2.PEntrez.Snp.Snp_Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.Snp.Snp_Facets.BMFacets" sid="1" type="hidden" value="" /></div>
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</div>
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<div id="maincontent" class="col seven_col">
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<div class="content">
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<div class="results_settings"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="2" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="3" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="4" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Sorted by SNP_ID</a></li></ul><div id="display_settings_menu" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPresentation" sid="1" value="SnpSum" format="" id="SnpSum" checked="true" /><label for="SnpSum">Summary</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="1" value="5" id="ps5" /><label for="ps5">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="2" value="10" id="ps10" /><label for="ps10">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="3" value="20" id="ps20" checked="true" /><label for="ps20">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="4" value="50" id="ps50" /><label for="ps50">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="5" value="100" id="ps100" /><label for="ps100">100</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="6" value="200" id="ps200" /><label for="ps200">200</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort" sid="1" value="none" id="none" /><label for="none">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort" sid="2" value="SNP_ID" id="SNP_ID" checked="true" /><label for="SNP_ID">SNP_ID</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort" sid="3" value="CHRPOS" id="CHRPOS" /><label for="CHRPOS">Chromosome Base Position</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
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jQuery(document).ready( function () {
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jQuery("#send_to_menu input[type='radio']").click( function () {
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var selectedValue = jQuery(this).val().toLowerCase();
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var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
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if(selectedDiv.is(":hidden")){
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jQuery("#send_to_menu div.submenu:visible").slideUp();
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selectedDiv.slideDown();
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}
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});
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});
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jQuery("#sendto").bind("ncbipopperclose", function(){
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jQuery("#send_to_menu div.submenu:visible").css("display","none");
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jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
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});
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</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FFormat" sid="1"><option value="SnpSum" format="text" selected="selected">Summary</option><option value="XML" format="text">XML</option><option value="Tab" format="text">Tab</option></select></li><li><label for="file_sort">Sort by</label><select id="file_sort" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FSort" sid="1"><option value="">Default order</option><option value="SNP_ID" selected="selected">SNP_ID</option><option value="CHRPOS">Chromosome Base Position</option></select></li></ul><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FileFormat" sid="1" type="hidden" value="snpsum" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastPresentation" sid="1" type="hidden" value="snpsum" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Presentation" sid="1" type="hidden" value="snpsum" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Sort" sid="1" type="hidden" value="SNP_ID" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastSort" sid="1" type="hidden" value="SNP_ID" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FileSort" sid="1" type="hidden" value="SNP_ID" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastFormat" sid="1" type="hidden" value="" /></div></div>
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</div>
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<div class="title_and_pager">
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<div><h2>Search results</h2><h3 class="result_count left">Items: 1 to 20 of 3486152</h3><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="3486152" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
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<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno">Page </label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.cPage" id="pageno" type="text" class="num" sid="1" value="1" last="174308" /> of 174308</h3><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="3" page="2" accesskey="k" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="4" page="174308" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Last >></a><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.CurrPage" sid="1" type="hidden" value="1" /></div>
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<div><!--
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- - - - - - - - begin Results - - - - - -
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--><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox301" class="ui-helper-hidden-accessible">Select item 301</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="1" type="checkbox" id="UidCheckBox301" value="301" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/snp/301" ref="ordinalpos=1&ncbi_uid=301&link_uid=301"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs301">rs301</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>C</span><span class="for_snp_flanks" snp_info="rs301:T/C:8:19959423:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>8:19959423
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(GRCh38)<br />8:19816934
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000008.11:19959422:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">LPL (<a href="/variation/view/?q=rs301"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>intron_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">C=0.2427336/46917
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(<a id="alfa_link" href=" /snp/rs301#frequency_tab ">ALFA</a>)<br />C=0.1720613/101
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(Vietnamese)<br />C=0.1734694/136
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(PRJEB37584)<br />C=0.1939337/15019
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(TOMMO)<br />C=0.2006361/1451
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(Korea4K)<br />C=0.2051195/601
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(KOREAN)<br />C=0.21/126
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(NorthernSweden)<br />C=0.2350762/328047
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(GnomAD_exomes)<br />C=0.2407407/52
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(Qatari)<br />C=0.2415433/457
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(HapMap)<br />C=0.2482084/19534
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(PAGE_STUDY)<br />C=0.2495536/1118
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(Estonian)<br />C=0.25/10
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(GENOME_DK)<br />C=0.2536378/37790
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(GnomAD_genomes)<br />C=0.2542521/67298
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(TOPMED)<br />C=0.2553092/1635
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(1000Genomes_30X)<br />C=0.255814/22
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(PRJEB36033)<br />C=0.2565788/28139
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(ExAC)<br />C=0.2602996/139
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(MGP)<br />C=0.2610229/296
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(Daghestan)<br />C=0.3410734/4436
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(GoESP)<br />C=0.3819888/1913
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(1000Genomes)<br />T=0.4166667/90
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(SGDP_PRJ)<br />T=0.5/11
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(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000008.11&search=NC_000008.11:g.19959423T>C&v=1:100&content=5 " target=" _blank ">NC_000008.11:g.19959423T>C</a>, <a href=" /projects/sviewer/?id=NC_000008.10&search=NC_000008.10:g.19816934T>C&v=1:100&content=5 " target=" _blank ">NC_000008.10:g.19816934T>C</a>, <a href=" /projects/sviewer/?id=NG_008855.2&search=NG_008855.2:g.62707T>C&v=1:100&content=5 " target=" _blank ">NG_008855.2:g.62707T>C</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=301"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox567" class="ui-helper-hidden-accessible">Select item 567</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="2" type="checkbox" id="UidCheckBox567" value="567" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/snp/567" ref="ordinalpos=2&ncbi_uid=567&link_uid=567"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs567">rs567</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A,C,T</span><span class="for_snp_flanks" snp_info="rs567:G/A/C/T:5:53683267:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>5:53683267
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(GRCh38)<br />5:52979097
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000005.10:53683266:G:A,NC_000005.10:53683266:G:C,NC_000005.10:53683266:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">NDUFS4 (<a href="/variation/view/?q=rs567"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>non_coding_transcript_variant,3_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.471051/128921
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(<a id="alfa_link" href=" /snp/rs567#frequency_tab ">ALFA</a>)<br />A=0.283259/2044
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(Korea4K)<br />A=0.287263/22229
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(TOMMO)<br />A=0.293122/537
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(Korea1K)<br />A=0.295337/228
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(PRJEB37584)<br />A=0.295563/866
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(KOREAN)<br />A=0.3/12
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(GENOME_DK)<br />A=0.324074/70
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(Vietnamese)<br />G=0.328571/115
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(SGDP_PRJ)<br />A=0.332975/620
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(HapMap)<br />A=0.365741/79
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(Qatari)<br />A=0.376796/2413
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(1000Genomes_30X)<br />A=0.378594/1896
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(1000Genomes)<br />A=0.379037/29414
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(PAGE_STUDY)<br />A=0.388333/233
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(NorthernSweden)<br />G=0.404762/17
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(Siberian)<br />A=0.414103/109609
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(TOPMED)<br />A=0.419499/5456
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(GoESP)<br />A=0.42281/62909
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(GnomAD_genomes)<br />A=0.448487/53491
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(ExAC)<br />A=0.455912/455
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(GoNL)<br />A=0.479502/1848
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(ALSPAC)<br />A=0.479687/2149
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(Estonian)<br />A=0.487325/1807
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(TWINSUK)<br />A=0.488764/261
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(MGP)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.53683267G>A&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.53683267G>A</a>, <a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.53683267G>C&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.53683267G>C</a>, <a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.53683267G>T&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.53683267G>T</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.52979097G>A&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.52979097G>A</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.52979097G>C&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.52979097G>C</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.52979097G>T&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.52979097G>T</a>, <a href=" /projects/sviewer/?id=NG_008200.1&search=NG_008200.1:g.127633G>A&v=1:100&content=5 " target=" _blank ">NG_008200.1:g.127633G>A</a>, <a href=" /projects/sviewer/?id=NG_008200.1&search=NG_008200.1:g.127633G>C&v=1:100&content=5 " target=" _blank ">NG_008200.1:g.127633G>C</a>, <a href=" /projects/sviewer/?id=NG_008200.1&search=NG_008200.1:g.127633G>T&v=1:100&content=5 " target=" _blank ">NG_008200.1:g.127633G>T</a>, <a href=" /projects/sviewer/?id=NM_002495.4&search=NM_002495.4:c.*46G>A&v=1:100&content=5 " target=" _blank ">NM_002495.4:c.*46G>A</a>, <a href=" /projects/sviewer/?id=NM_002495.4&search=NM_002495.4:c.*46G>C&v=1:100&content=5 " target=" _blank ">NM_002495.4:c.*46G>C</a>, <a href=" /projects/sviewer/?id=NM_002495.4&search=NM_002495.4:c.*46G>T&v=1:100&content=5 " target=" _blank ">NM_002495.4:c.*46G>T</a>, <a href=" /projects/sviewer/?id=NM_002495.3&search=NM_002495.3:c.*46G>A&v=1:100&content=5 " target=" _blank ">NM_002495.3:c.*46G>A</a>, <a href=" /projects/sviewer/?id=NM_002495.3&search=NM_002495.3:c.*46G>C&v=1:100&content=5 " target=" _blank ">NM_002495.3:c.*46G>C</a>, <a href=" /projects/sviewer/?id=NM_002495.3&search=NM_002495.3:c.*46G>T&v=1:100&content=5 " target=" _blank ">NM_002495.3:c.*46G>T</a>, <a href=" /projects/sviewer/?id=NM_002495.2&search=NM_002495.2:c.*46G>A&v=1:100&content=5 " target=" _blank ">NM_002495.2:c.*46G>A</a>, <a href=" /projects/sviewer/?id=NM_002495.2&search=NM_002495.2:c.*46G>C&v=1:100&content=5 " target=" _blank ">NM_002495.2:c.*46G>C</a>, <a href=" /projects/sviewer/?id=NM_002495.2&search=NM_002495.2:c.*46G>T&v=1:100&content=5 " target=" _blank ">NM_002495.2:c.*46G>T</a>, <a href=" /projects/sviewer/?id=NR_134473.2&search=NR_134473.2:n.770G>A&v=1:100&content=5 " target=" _blank ">NR_134473.2:n.770G>A</a>, <a href=" /projects/sviewer/?id=NR_134473.2&search=NR_134473.2:n.770G>C&v=1:100&content=5 " target=" _blank ">NR_134473.2:n.770G>C</a>, <a href=" /projects/sviewer/?id=NR_134473.2&search=NR_134473.2:n.770G>T&v=1:100&content=5 " target=" _blank ">NR_134473.2:n.770G>T</a>, <a href=" /projects/sviewer/?id=NR_134473.1&search=NR_134473.1:n.776G>A&v=1:100&content=5 " target=" _blank ">NR_134473.1:n.776G>A</a>, <a href=" /projects/sviewer/?id=NR_134473.1&search=NR_134473.1:n.776G>C&v=1:100&content=5 " target=" _blank ">NR_134473.1:n.776G>C</a>, <a href=" /projects/sviewer/?id=NR_134473.1&search=NR_134473.1:n.776G>T&v=1:100&content=5 " target=" _blank ">NR_134473.1:n.776G>T</a>, <a href=" /projects/sviewer/?id=NR_134475.2&search=NR_134475.2:n.722G>A&v=1:100&content=5 " target=" _blank ">NR_134475.2:n.722G>A</a>, <a href=" /projects/sviewer/?id=NR_134475.2&search=NR_134475.2:n.722G>C&v=1:100&content=5 " target=" _blank ">NR_134475.2:n.722G>C</a>, <a href=" /projects/sviewer/?id=NR_134475.2&search=NR_134475.2:n.722G>T&v=1:100&content=5 " target=" _blank ">NR_134475.2:n.722G>T</a>, <a href=" /projects/sviewer/?id=NR_134475.1&search=NR_134475.1:n.728G>A&v=1:100&content=5 " target=" _blank ">NR_134475.1:n.728G>A</a>, <a href=" /projects/sviewer/?id=NR_134475.1&search=NR_134475.1:n.728G>C&v=1:100&content=5 " target=" _blank ">NR_134475.1:n.728G>C</a>, <a href=" /projects/sviewer/?id=NR_134475.1&search=NR_134475.1:n.728G>T&v=1:100&content=5 " target=" _blank ">NR_134475.1:n.728G>T</a>, <a href=" /projects/sviewer/?id=NR_134474.2&search=NR_134474.2:n.687G>A&v=1:100&content=5 " target=" _blank ">NR_134474.2:n.687G>A</a>, <a href=" /projects/sviewer/?id=NR_134474.2&search=NR_134474.2:n.687G>C&v=1:100&content=5 " target=" _blank ">NR_134474.2:n.687G>C</a>, <a href=" /projects/sviewer/?id=NR_134474.2&search=NR_134474.2:n.687G>T&v=1:100&content=5 " target=" _blank ">NR_134474.2:n.687G>T</a>, <a href=" /projects/sviewer/?id=NR_134474.1&search=NR_134474.1:n.693G>A&v=1:100&content=5 " target=" _blank ">NR_134474.1:n.693G>A</a>, <a href=" /projects/sviewer/?id=NR_134474.1&search=NR_134474.1:n.693G>C&v=1:100&content=5 " target=" _blank ">NR_134474.1:n.693G>C</a>, <a href=" /projects/sviewer/?id=NR_134474.1&search=NR_134474.1:n.693G>T&v=1:100&content=5 " target=" _blank ">NR_134474.1:n.693G>T</a>, <a href=" /projects/sviewer/?id=NM_001318051.2&search=NM_001318051.2:c.*137G>A&v=1:100&content=5 " target=" _blank ">NM_001318051.2:c.*137G>A</a>, <a href=" /projects/sviewer/?id=NM_001318051.2&search=NM_001318051.2:c.*137G>C&v=1:100&content=5 " target=" _blank ">NM_001318051.2:c.*137G>C</a>, <a href=" /projects/sviewer/?id=NM_001318051.2&search=NM_001318051.2:c.*137G>T&v=1:100&content=5 " target=" _blank ">NM_001318051.2:c.*137G>T</a>, <a href=" /projects/sviewer/?id=NM_001318051.1&search=NM_001318051.1:c.*137G>A&v=1:100&content=5 " target=" _blank ">NM_001318051.1:c.*137G>A</a>, <a href=" /projects/sviewer/?id=NM_001318051.1&search=NM_001318051.1:c.*137G>C&v=1:100&content=5 " target=" _blank ">NM_001318051.1:c.*137G>C</a>, <a href=" /projects/sviewer/?id=NM_001318051.1&search=NM_001318051.1:c.*137G>T&v=1:100&content=5 " target=" _blank ">NM_001318051.1:c.*137G>T</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=567"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox675" class="ui-helper-hidden-accessible">Select item 675</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="3" type="checkbox" id="UidCheckBox675" value="675" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/snp/675" ref="ordinalpos=3&ncbi_uid=675&link_uid=675"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs675">rs675</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>A,C,G</span><span class="for_snp_flanks" snp_info="rs675:T/A/C/G:11:116820959:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>11:116820959
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(GRCh38)<br />11:116691675
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000011.10:116820958:T:A,NC_000011.10:116820958:T:C,NC_000011.10:116820958:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">APOA4 (<a href="/variation/view/?q=rs675"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,missense_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign,likely-benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.168652/15091
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(<a id="alfa_link" href=" /snp/rs675#frequency_tab ">ALFA</a>)<br />A=0.000138/1
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(Korea4K)<br />A=0.000546/1
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(Korea1K)<br />A=0.003788/3
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(PRJEB37584)<br />A=0.004886/3
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(Vietnamese)<br />G=0.009615/1
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(SGDP_PRJ)<br />A=0.098842/495
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(1000Genomes)<br />A=0.1/4
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(GENOME_DK)<br />A=0.101031/647
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(1000Genomes_30X)<br />A=0.103659/34
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(HapMap)<br />A=0.108135/8510
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(PAGE_STUDY)<br />A=0.146667/88
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(NorthernSweden)<br />A=0.147887/42
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(PharmGKB)<br />A=0.148026/45
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(FINRISK)<br />A=0.153659/40672
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(TOPMED)<br />A=0.16854/2189
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(GoESP)<br />A=0.178571/800
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(Estonian)<br />A=0.191011/102
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(MGP)<br />A=0.202405/202
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(GoNL)<br />A=0.212963/46
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(Qatari)<br />A=0.4/4
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(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.116820959T>A&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.116820959T>A</a>, <a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.116820959T>C&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.116820959T>C</a>, <a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.116820959T>G&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.116820959T>G</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.116691675T>A&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.116691675T>A</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.116691675T>C&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.116691675T>C</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.116691675T>G&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.116691675T>G</a>, <a href=" /projects/sviewer/?id=NG_012044.1&search=NG_012044.1:g.7337A>T&v=1:100&content=5 " target=" _blank ">NG_012044.1:g.7337A>T</a>, <a href=" /projects/sviewer/?id=NG_012044.1&search=NG_012044.1:g.7337A>G&v=1:100&content=5 " target=" _blank ">NG_012044.1:g.7337A>G</a>, <a href=" /projects/sviewer/?id=NG_012044.1&search=NG_012044.1:g.7337A>C&v=1:100&content=5 " target=" _blank ">NG_012044.1:g.7337A>C</a>, <a href=" /projects/sviewer/?id=NM_000482.4&search=NM_000482.4:c.1099A>T&v=1:100&content=5 " target=" _blank ">NM_000482.4:c.1099A>T</a>, <a href=" /projects/sviewer/?id=NM_000482.4&search=NM_000482.4:c.1099A>G&v=1:100&content=5 " target=" _blank ">NM_000482.4:c.1099A>G</a>, <a href=" /projects/sviewer/?id=NM_000482.4&search=NM_000482.4:c.1099A>C&v=1:100&content=5 " target=" _blank ">NM_000482.4:c.1099A>C</a>, <a href=" /projects/sviewer/?id=NM_000482.3&search=NM_000482.3:c.1099A>T&v=1:100&content=5 " target=" _blank ">NM_000482.3:c.1099A>T</a>, <a href=" /projects/sviewer/?id=NM_000482.3&search=NM_000482.3:c.1099A>G&v=1:100&content=5 " target=" _blank ">NM_000482.3:c.1099A>G</a>, <a href=" /projects/sviewer/?id=NM_000482.3&search=NM_000482.3:c.1099A>C&v=1:100&content=5 " target=" _blank ">NM_000482.3:c.1099A>C</a>, <a href=" /projects/sviewer/?id=NP_000473.2&search=NP_000473.2:p.Thr367Ser&v=1:100&content=5 " target=" _blank ">NP_000473.2:p.Thr367Ser</a>, <a href=" /projects/sviewer/?id=NP_000473.2&search=NP_000473.2:p.Thr367Ala&v=1:100&content=5 " target=" _blank ">NP_000473.2:p.Thr367Ala</a>, <a href=" /projects/sviewer/?id=NP_000473.2&search=NP_000473.2:p.Thr367Pro&v=1:100&content=5 " target=" _blank ">NP_000473.2:p.Thr367Pro</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=675"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox695" class="ui-helper-hidden-accessible">Select item 695</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="4" type="checkbox" id="UidCheckBox695" value="695" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/snp/695" ref="ordinalpos=4&ncbi_uid=695&link_uid=695"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs695">rs695</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>A,C,G</span><span class="for_snp_flanks" snp_info="rs695:T/A/C/G:17:63918839:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>17:63918839
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(GRCh38)<br />17:61996199
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000017.11:63918838:T:A,NC_000017.11:63918838:T:C,NC_000017.11:63918838:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">GH1 (<a href="/variation/view/?q=rs695"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>5_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign,likely-benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.04618/600
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(<a id="alfa_link" href=" /snp/rs695#frequency_tab ">ALFA</a>)<br />A=0.03515/103
|
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(KOREAN)<br />A=0.07867/394
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(1000Genomes)<br />A=0.08198/525
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(1000Genomes_30X)<br />A=0.08796/19
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(Qatari)<br />A=0.11432/522
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(GoESP)<br />A=0.35366/29
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(SGDP_PRJ)<br />T=0.5/2
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(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.63918839T>A&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.63918839T>A</a>, <a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.63918839T>C&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.63918839T>C</a>, <a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.63918839T>G&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.63918839T>G</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.61996199T>A&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.61996199T>A</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.61996199T>C&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.61996199T>C</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.61996199T>G&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.61996199T>G</a>, <a href=" /projects/sviewer/?id=NG_042788.1&search=NG_042788.1:g.1747T>A&v=1:100&content=5 " target=" _blank ">NG_042788.1:g.1747T>A</a>, <a href=" /projects/sviewer/?id=NG_042788.1&search=NG_042788.1:g.1747T>C&v=1:100&content=5 " target=" _blank ">NG_042788.1:g.1747T>C</a>, <a href=" /projects/sviewer/?id=NG_042788.1&search=NG_042788.1:g.1747T>G&v=1:100&content=5 " target=" _blank ">NG_042788.1:g.1747T>G</a>, <a href=" /projects/sviewer/?id=NG_011676.1&search=NG_011676.1:g.5000A>T&v=1:100&content=5 " target=" _blank ">NG_011676.1:g.5000A>T</a>, <a href=" /projects/sviewer/?id=NG_011676.1&search=NG_011676.1:g.5000A>G&v=1:100&content=5 " target=" _blank ">NG_011676.1:g.5000A>G</a>, <a href=" /projects/sviewer/?id=NG_011676.1&search=NG_011676.1:g.5000A>C&v=1:100&content=5 " target=" _blank ">NG_011676.1:g.5000A>C</a>, <a href=" /projects/sviewer/?id=NM_000515.5&search=NM_000515.5:c.-63A>T&v=1:100&content=5 " target=" _blank ">NM_000515.5:c.-63A>T</a>, <a href=" /projects/sviewer/?id=NM_000515.5&search=NM_000515.5:c.-63A>G&v=1:100&content=5 " target=" _blank ">NM_000515.5:c.-63A>G</a>, <a href=" /projects/sviewer/?id=NM_000515.5&search=NM_000515.5:c.-63A>C&v=1:100&content=5 " target=" _blank ">NM_000515.5:c.-63A>C</a>, <a href=" /projects/sviewer/?id=NM_000515.4&search=NM_000515.4:c.-63A>T&v=1:100&content=5 " target=" _blank ">NM_000515.4:c.-63A>T</a>, <a href=" /projects/sviewer/?id=NM_000515.4&search=NM_000515.4:c.-63A>G&v=1:100&content=5 " target=" _blank ">NM_000515.4:c.-63A>G</a>, <a href=" /projects/sviewer/?id=NM_000515.4&search=NM_000515.4:c.-63A>C&v=1:100&content=5 " target=" _blank ">NM_000515.4:c.-63A>C</a>, <a href=" /projects/sviewer/?id=NM_022559.4&search=NM_022559.4:c.-63A>T&v=1:100&content=5 " target=" _blank ">NM_022559.4:c.-63A>T</a>, <a href=" /projects/sviewer/?id=NM_022559.4&search=NM_022559.4:c.-63A>G&v=1:100&content=5 " target=" _blank ">NM_022559.4:c.-63A>G</a>, <a href=" /projects/sviewer/?id=NM_022559.4&search=NM_022559.4:c.-63A>C&v=1:100&content=5 " target=" _blank ">NM_022559.4:c.-63A>C</a>, <a href=" /projects/sviewer/?id=NM_022559.3&search=NM_022559.3:c.-63A>T&v=1:100&content=5 " target=" _blank ">NM_022559.3:c.-63A>T</a>, <a href=" /projects/sviewer/?id=NM_022559.3&search=NM_022559.3:c.-63A>G&v=1:100&content=5 " target=" _blank ">NM_022559.3:c.-63A>G</a>, <a href=" /projects/sviewer/?id=NM_022559.3&search=NM_022559.3:c.-63A>C&v=1:100&content=5 " target=" _blank ">NM_022559.3:c.-63A>C</a>, <a href=" /projects/sviewer/?id=NM_022560.4&search=NM_022560.4:c.-63A>T&v=1:100&content=5 " target=" _blank ">NM_022560.4:c.-63A>T</a>, <a href=" /projects/sviewer/?id=NM_022560.4&search=NM_022560.4:c.-63A>G&v=1:100&content=5 " target=" _blank ">NM_022560.4:c.-63A>G</a>, <a href=" /projects/sviewer/?id=NM_022560.4&search=NM_022560.4:c.-63A>C&v=1:100&content=5 " target=" _blank ">NM_022560.4:c.-63A>C</a>, <a href=" /projects/sviewer/?id=NM_022560.3&search=NM_022560.3:c.-63A>T&v=1:100&content=5 " target=" _blank ">NM_022560.3:c.-63A>T</a>, <a href=" /projects/sviewer/?id=NM_022560.3&search=NM_022560.3:c.-63A>G&v=1:100&content=5 " target=" _blank ">NM_022560.3:c.-63A>G</a>, <a href=" /projects/sviewer/?id=NM_022560.3&search=NM_022560.3:c.-63A>C&v=1:100&content=5 " target=" _blank ">NM_022560.3:c.-63A>C</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=695"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox704" class="ui-helper-hidden-accessible">Select item 704</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="5" type="checkbox" id="UidCheckBox704" value="704" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/snp/704" ref="ordinalpos=5&ncbi_uid=704&link_uid=704"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs704">rs704</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A</span><span class="for_snp_flanks" snp_info="rs704:G/A:17:28367840:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>17:28367840
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(GRCh38)<br />17:26694861
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000017.11:28367839:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">VTN (<a href="/variation/view/?q=rs704"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,missense_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.4885623/86071
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(<a id="alfa_link" href=" /snp/rs704#frequency_tab ">ALFA</a>)<br />G=0.2278421/17645
|
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(TOMMO)<br />G=0.2401747/440
|
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(Korea1K)<br />G=0.2546075/746
|
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(KOREAN)<br />G=0.256428/1855
|
|
(Korea4K)<br />G=0.284264/224
|
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(PRJEB37584)<br />G=0.3118557/121
|
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(SGDP_PRJ)<br />G=0.3461538/18
|
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(Siberian)<br />G=0.3798701/234
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(Vietnamese)<br />A=0.410596/124
|
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(FINRISK)<br />G=0.4264874/33562
|
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(PAGE_STUDY)<br />A=0.4305556/93
|
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(Qatari)<br />G=0.4353529/2788
|
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(1000Genomes_30X)<br />A=0.4448661/1993
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(Estonian)<br />G=0.4448882/2228
|
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(1000Genomes)<br />G=0.4497886/851
|
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(HapMap)<br />G=0.45/18
|
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(GENOME_DK)<br />A=0.4504411/1736
|
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(ALSPAC)<br />A=0.4533333/272
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(NorthernSweden)<br />A=0.4588015/245
|
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(MGP)<br />A=0.4639279/463
|
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(GoNL)<br />G=0.4674865/123739
|
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(TOPMED)<br />A=0.4768069/1768
|
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(TWINSUK)<br />G=0.4851275/72349
|
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(GnomAD_genomes)<br />A=0.4861658/681268
|
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(GnomAD_exomes)<br />G=0.4904659/6379
|
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(GoESP)<br />G=0.4917927/59382
|
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(ExAC)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.28367840G>A&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.28367840G>A</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.26694861G>A&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.26694861G>A</a>, <a href=" /projects/sviewer/?id=NW_003871090.1&search=NW_003871090.1:g.49703G>A&v=1:100&content=5 " target=" _blank ">NW_003871090.1:g.49703G>A</a>, <a href=" /projects/sviewer/?id=NM_000638.4&search=NM_000638.4:c.1199C>T&v=1:100&content=5 " target=" _blank ">NM_000638.4:c.1199C>T</a>, <a href=" /projects/sviewer/?id=NM_000638.3&search=NM_000638.3:c.1199C>T&v=1:100&content=5 " target=" _blank ">NM_000638.3:c.1199C>T</a>, <a href=" /projects/sviewer/?id=NM_001083896.1&search=NM_001083896.1:c.-51C>T&v=1:100&content=5 " target=" _blank ">NM_001083896.1:c.-51C>T</a>, <a href=" /projects/sviewer/?id=NP_000629.3&search=NP_000629.3:p.Thr400Met&v=1:100&content=5 " target=" _blank ">NP_000629.3:p.Thr400Met</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=704"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox846" class="ui-helper-hidden-accessible">Select item 846</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="6" type="checkbox" id="UidCheckBox846" value="846" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/snp/846" ref="ordinalpos=6&ncbi_uid=846&link_uid=846"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs846">rs846</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>A,T</span><span class="for_snp_flanks" snp_info="rs846:C/A/T:3:81490231:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>3:81490231
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(GRCh38)<br />3:81539382
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000003.12:81490230:C:A,NC_000003.12:81490230:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">GBE1 (<a href="/variation/view/?q=rs846"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>genic_downstream_transcript_variant,3_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.381763/10400
|
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(<a id="alfa_link" href=" /snp/rs846#frequency_tab ">ALFA</a>)<br />T=0.060185/13
|
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(Vietnamese)<br />T=0.119186/861
|
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(Korea4K)<br />T=0.132765/389
|
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(KOREAN)<br />T=0.173132/13407
|
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(TOMMO)<br />T=0.237179/74
|
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(HapMap)<br />T=0.306527/1963
|
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(1000Genomes_30X)<br />T=0.309105/1548
|
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(1000Genomes)<br />C=0.317518/87
|
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(SGDP_PRJ)<br />T=0.325/13
|
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(GENOME_DK)<br />T=0.351895/93143
|
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(TOPMED)<br />T=0.362389/54001
|
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(GnomAD_genomes)<br />T=0.407407/88
|
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(Qatari)<br />T=0.423848/423
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(GoNL)<br />T=0.43/258
|
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(NorthernSweden)<br />T=0.43195/177280
|
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(GnomAD_exomes)<br />T=0.432143/1936
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(Estonian)<br />C=0.433333/13
|
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(Siberian)<br />T=0.447327/1724
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(ALSPAC)<br />T=0.453344/1681
|
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(TWINSUK)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000003.12&search=NC_000003.12:g.81490231C>A&v=1:100&content=5 " target=" _blank ">NC_000003.12:g.81490231C>A</a>, <a href=" /projects/sviewer/?id=NC_000003.12&search=NC_000003.12:g.81490231C>T&v=1:100&content=5 " target=" _blank ">NC_000003.12:g.81490231C>T</a>, <a href=" /projects/sviewer/?id=NC_000003.11&search=NC_000003.11:g.81539382C>A&v=1:100&content=5 " target=" _blank ">NC_000003.11:g.81539382C>A</a>, <a href=" /projects/sviewer/?id=NC_000003.11&search=NC_000003.11:g.81539382C>T&v=1:100&content=5 " target=" _blank ">NC_000003.11:g.81539382C>T</a>, <a href=" /projects/sviewer/?id=NG_011810.2&search=NG_011810.2:g.276414G>T&v=1:100&content=5 " target=" _blank ">NG_011810.2:g.276414G>T</a>, <a href=" /projects/sviewer/?id=NG_011810.2&search=NG_011810.2:g.276414G>A&v=1:100&content=5 " target=" _blank ">NG_011810.2:g.276414G>A</a>, <a href=" /projects/sviewer/?id=NG_011810.1&search=NG_011810.1:g.276570G>T&v=1:100&content=5 " target=" _blank ">NG_011810.1:g.276570G>T</a>, <a href=" /projects/sviewer/?id=NG_011810.1&search=NG_011810.1:g.276570G>A&v=1:100&content=5 " target=" _blank ">NG_011810.1:g.276570G>A</a>, <a href=" /projects/sviewer/?id=NM_000158.4&search=NM_000158.4:c.*176G>T&v=1:100&content=5 " target=" _blank ">NM_000158.4:c.*176G>T</a>, <a href=" /projects/sviewer/?id=NM_000158.4&search=NM_000158.4:c.*176G>A&v=1:100&content=5 " target=" _blank ">NM_000158.4:c.*176G>A</a>, <a href=" /projects/sviewer/?id=NM_000158.3&search=NM_000158.3:c.*176G>T&v=1:100&content=5 " target=" _blank ">NM_000158.3:c.*176G>T</a>, <a href=" /projects/sviewer/?id=NM_000158.3&search=NM_000158.3:c.*176G>A&v=1:100&content=5 " target=" _blank ">NM_000158.3:c.*176G>A</a></span></div></dd>
|
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox903" class="ui-helper-hidden-accessible">Select item 903</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="7" type="checkbox" id="UidCheckBox903" value="903" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/snp/903" ref="ordinalpos=7&ncbi_uid=903&link_uid=903"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs903">rs903</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>A,G,T</span><span class="for_snp_flanks" snp_info="rs903:C/A/G/T:17:41501085:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>17:41501085
|
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(GRCh38)<br />17:39657337
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000017.11:41501084:C:A,NC_000017.11:41501084:C:G,NC_000017.11:41501084:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">KRT13 (<a href="/variation/view/?q=rs903"><span>Varview</span></a>)</span>
|
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</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant
|
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">C=0.387585/56068
|
|
(<a id="alfa_link" href=" /snp/rs903#frequency_tab ">ALFA</a>)<br />C=0.192623/94
|
|
(SGDP_PRJ)<br />C=0.25907/457
|
|
(HapMap)<br />C=0.300926/65
|
|
(Qatari)<br />C=0.304348/14
|
|
(Siberian)<br />C=0.308245/1974
|
|
(1000Genomes_30X)<br />C=0.310304/1554
|
|
(1000Genomes)<br />C=0.313775/83053
|
|
(TOPMED)<br />C=0.320723/47807
|
|
(GnomAD_genomes)<br />C=0.367412/230
|
|
(Chileans)<br />C=0.393304/1762
|
|
(Estonian)<br />C=0.395901/1468
|
|
(TWINSUK)<br />C=0.401667/241
|
|
(NorthernSweden)<br />C=0.412299/1589
|
|
(ALSPAC)<br />A=0.420561/90
|
|
(Vietnamese)<br />C=0.440882/440
|
|
(GoNL)<br />C=0.45/18
|
|
(GENOME_DK)<br />C=0.459687/35600
|
|
(TOMMO)<br />C=0.477133/1398
|
|
(KOREAN)<br />C=0.478285/3458
|
|
(Korea4K)<br />C=0.485808/890
|
|
(Korea1K)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.41501085C>A&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.41501085C>A</a>, <a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.41501085C>G&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.41501085C>G</a>, <a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.41501085C>T&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.41501085C>T</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.39657337C>A&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.39657337C>A</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.39657337C>G&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.39657337C>G</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.39657337C>T&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.39657337C>T</a>, <a href=" /projects/sviewer/?id=NG_008406.2&search=NG_008406.2:g.9527G>T&v=1:100&content=5 " target=" _blank ">NG_008406.2:g.9527G>T</a>, <a href=" /projects/sviewer/?id=NG_008406.2&search=NG_008406.2:g.9527G>C&v=1:100&content=5 " target=" _blank ">NG_008406.2:g.9527G>C</a>, <a href=" /projects/sviewer/?id=NG_008406.2&search=NG_008406.2:g.9527G>A&v=1:100&content=5 " target=" _blank ">NG_008406.2:g.9527G>A</a>, <a href=" /projects/sviewer/?id=NG_008406.1&search=NG_008406.1:g.9529G>T&v=1:100&content=5 " target=" _blank ">NG_008406.1:g.9529G>T</a>, <a href=" /projects/sviewer/?id=NG_008406.1&search=NG_008406.1:g.9529G>C&v=1:100&content=5 " target=" _blank ">NG_008406.1:g.9529G>C</a>, <a href=" /projects/sviewer/?id=NG_008406.1&search=NG_008406.1:g.9529G>A&v=1:100&content=5 " target=" _blank ">NG_008406.1:g.9529G>A</a>, <a href=" /projects/sviewer/?id=NM_002274.4&search=NM_002274.4:c.*259G>T&v=1:100&content=5 " target=" _blank ">NM_002274.4:c.*259G>T</a>, <a href=" /projects/sviewer/?id=NM_002274.4&search=NM_002274.4:c.*259G>C&v=1:100&content=5 " target=" _blank ">NM_002274.4:c.*259G>C</a>, <a href=" /projects/sviewer/?id=NM_002274.4&search=NM_002274.4:c.*259G>A&v=1:100&content=5 " target=" _blank ">NM_002274.4:c.*259G>A</a>, <a href=" /projects/sviewer/?id=NM_002274.3&search=NM_002274.3:c.*259G>T&v=1:100&content=5 " target=" _blank ">NM_002274.3:c.*259G>T</a>, <a href=" /projects/sviewer/?id=NM_002274.3&search=NM_002274.3:c.*259G>C&v=1:100&content=5 " target=" _blank ">NM_002274.3:c.*259G>C</a>, <a href=" /projects/sviewer/?id=NM_002274.3&search=NM_002274.3:c.*259G>A&v=1:100&content=5 " target=" _blank ">NM_002274.3:c.*259G>A</a>, <a href=" /projects/sviewer/?id=NM_153490.3&search=NM_153490.3:c.*171G>T&v=1:100&content=5 " target=" _blank ">NM_153490.3:c.*171G>T</a>, <a href=" /projects/sviewer/?id=NM_153490.3&search=NM_153490.3:c.*171G>C&v=1:100&content=5 " target=" _blank ">NM_153490.3:c.*171G>C</a>, <a href=" /projects/sviewer/?id=NM_153490.3&search=NM_153490.3:c.*171G>A&v=1:100&content=5 " target=" _blank ">NM_153490.3:c.*171G>A</a>, <a href=" /projects/sviewer/?id=NM_153490.2&search=NM_153490.2:c.*171G>T&v=1:100&content=5 " target=" _blank ">NM_153490.2:c.*171G>T</a>, <a href=" /projects/sviewer/?id=NM_153490.2&search=NM_153490.2:c.*171G>C&v=1:100&content=5 " target=" _blank ">NM_153490.2:c.*171G>C</a>, <a href=" /projects/sviewer/?id=NM_153490.2&search=NM_153490.2:c.*171G>A&v=1:100&content=5 " target=" _blank ">NM_153490.2:c.*171G>A</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox910" class="ui-helper-hidden-accessible">Select item 910</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="8" type="checkbox" id="UidCheckBox910" value="910" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/snp/910" ref="ordinalpos=8&ncbi_uid=910&link_uid=910"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs910">rs910</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>A>C,G,T</span><span class="for_snp_flanks" snp_info="rs910:A/C/G/T:9:12710035:snv:1"><a class="anchor_show_flank_toggle">
|
|
[Show Flanks]
|
|
</a></span></dd><dt>Chromosome: </dt><dd>9:12710035
|
|
(GRCh38)<br />9:12710035
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000009.12:12710034:A:C,NC_000009.12:12710034:A:G,NC_000009.12:12710034:A:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">TYRP1 (<a href="/variation/view/?q=rs910"><span>Varview</span></a>), LURAP1L-AS1 (<a href="/variation/view/?q=rs910"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0./0
|
|
(<a id="alfa_link" href=" /snp/rs910#frequency_tab ">ALFA</a>)<br />C=0.004725/34
|
|
(Korea4K)<br />C=0.007871/23
|
|
(KOREAN)<br />C=0.027778/6
|
|
(Vietnamese)<br />C=0.030239/2332
|
|
(TOMMO)<br />A=0.225/135
|
|
(NorthernSweden)<br />C=0.261581/1310
|
|
(1000Genomes)<br />C=0.262804/1683
|
|
(1000Genomes_30X)<br />A=0.271652/1217
|
|
(Estonian)<br />C=0.275186/519
|
|
(HapMap)<br />A=0.295591/295
|
|
(GoNL)<br />A=0.303128/1124
|
|
(TWINSUK)<br />C=0.314815/68
|
|
(Qatari)<br />A=0.322522/1243
|
|
(ALSPAC)<br />A=0.333333/14
|
|
(Siberian)<br />A=0.338983/80
|
|
(SGDP_PRJ)<br />A=0.35/14
|
|
(GENOME_DK)<br />C=0.455015/120438
|
|
(TOPMED)<br />C=0.473592/538
|
|
(Daghestan)<br />C=0.484179/72011
|
|
(GnomAD_genomes)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000009.12&search=NC_000009.12:g.12710035A>C&v=1:100&content=5 " target=" _blank ">NC_000009.12:g.12710035A>C</a>, <a href=" /projects/sviewer/?id=NC_000009.12&search=NC_000009.12:g.12710035A>G&v=1:100&content=5 " target=" _blank ">NC_000009.12:g.12710035A>G</a>, <a href=" /projects/sviewer/?id=NC_000009.12&search=NC_000009.12:g.12710035A>T&v=1:100&content=5 " target=" _blank ">NC_000009.12:g.12710035A>T</a>, <a href=" /projects/sviewer/?id=NC_000009.11&search=NC_000009.11:g.12710035A>C&v=1:100&content=5 " target=" _blank ">NC_000009.11:g.12710035A>C</a>, <a href=" /projects/sviewer/?id=NC_000009.11&search=NC_000009.11:g.12710035A>G&v=1:100&content=5 " target=" _blank ">NC_000009.11:g.12710035A>G</a>, <a href=" /projects/sviewer/?id=NC_000009.11&search=NC_000009.11:g.12710035A>T&v=1:100&content=5 " target=" _blank ">NC_000009.11:g.12710035A>T</a>, <a href=" /projects/sviewer/?id=NG_011705.1&search=NG_011705.1:g.21650A>C&v=1:100&content=5 " target=" _blank ">NG_011705.1:g.21650A>C</a>, <a href=" /projects/sviewer/?id=NG_011705.1&search=NG_011705.1:g.21650A>G&v=1:100&content=5 " target=" _blank ">NG_011705.1:g.21650A>G</a>, <a href=" /projects/sviewer/?id=NG_011705.1&search=NG_011705.1:g.21650A>T&v=1:100&content=5 " target=" _blank ">NG_011705.1:g.21650A>T</a>, <a href=" /projects/sviewer/?id=NM_000550.3&search=NM_000550.3:c.*853A>C&v=1:100&content=5 " target=" _blank ">NM_000550.3:c.*853A>C</a>, <a href=" /projects/sviewer/?id=NM_000550.3&search=NM_000550.3:c.*853A>G&v=1:100&content=5 " target=" _blank ">NM_000550.3:c.*853A>G</a>, <a href=" /projects/sviewer/?id=NM_000550.3&search=NM_000550.3:c.*853A>T&v=1:100&content=5 " target=" _blank ">NM_000550.3:c.*853A>T</a>, <a href=" /projects/sviewer/?id=NM_000550.2&search=NM_000550.2:c.*853A>C&v=1:100&content=5 " target=" _blank ">NM_000550.2:c.*853A>C</a>, <a href=" /projects/sviewer/?id=NM_000550.2&search=NM_000550.2:c.*853A>G&v=1:100&content=5 " target=" _blank ">NM_000550.2:c.*853A>G</a>, <a href=" /projects/sviewer/?id=NM_000550.2&search=NM_000550.2:c.*853A>T&v=1:100&content=5 " target=" _blank ">NM_000550.2:c.*853A>T</a></span></div></dd>
|
|
</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=910"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1085" class="ui-helper-hidden-accessible">Select item 1085</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="9" type="checkbox" id="UidCheckBox1085" value="1085" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/snp/1085" ref="ordinalpos=9&ncbi_uid=1085&link_uid=1085"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1085">rs1085</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>A>C,T</span><span class="for_snp_flanks" snp_info="rs1085:A/C/T:1:102890612:snv:1"><a class="anchor_show_flank_toggle">
|
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[Show Flanks]
|
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</a></span></dd><dt>Chromosome: </dt><dd>1:102890612
|
|
(GRCh38)<br />1:103356168
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:102890611:A:C,NC_000001.11:102890611:A:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">COL11A1 (<a href="/variation/view/?q=rs1085"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>intron_variant,genic_downstream_transcript_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.270951/15965
|
|
(<a id="alfa_link" href=" /snp/rs1085#frequency_tab ">ALFA</a>)<br />A=0.125/2
|
|
(PRJEB36033)<br />A=0.125/6
|
|
(Siberian)<br />A=0.192946/93
|
|
(SGDP_PRJ)<br />A=0.196629/105
|
|
(MGP)<br />A=0.22081/851
|
|
(ALSPAC)<br />A=0.225/135
|
|
(NorthernSweden)<br />A=0.225/9
|
|
(GENOME_DK)<br />A=0.228348/1023
|
|
(Estonian)<br />A=0.234088/868
|
|
(TWINSUK)<br />A=0.241003/146710
|
|
(GnomAD_exomes)<br />A=0.242485/242
|
|
(GoNL)<br />A=0.242504/275
|
|
(Daghestan)<br />A=0.24537/53
|
|
(Qatari)<br />A=0.280888/582
|
|
(HGDP_Stanford)<br />A=0.299127/548
|
|
(Korea1K)<br />A=0.299659/878
|
|
(KOREAN)<br />A=0.3/63
|
|
(Vietnamese)<br />A=0.300667/2163
|
|
(Korea4K)<br />A=0.327112/25306
|
|
(TOMMO)<br />A=0.34709/51604
|
|
(GnomAD_genomes)<br />A=0.356122/94262
|
|
(TOPMED)<br />A=0.373203/1869
|
|
(1000Genomes)<br />A=0.377264/2416
|
|
(1000Genomes_30X)<br />C=0.405367/287
|
|
(HapMap)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.102890612A>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.102890612A>C</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.102890612A>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.102890612A>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.103356168A>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.103356168A>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.103356168A>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.103356168A>T</a>, <a href=" /projects/sviewer/?id=NG_008033.2&search=NG_008033.2:g.222885T>G&v=1:100&content=5 " target=" _blank ">NG_008033.2:g.222885T>G</a>, <a href=" /projects/sviewer/?id=NG_008033.2&search=NG_008033.2:g.222885T>A&v=1:100&content=5 " target=" _blank ">NG_008033.2:g.222885T>A</a></span></div></dd>
|
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1107" class="ui-helper-hidden-accessible">Select item 1107</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="10" type="checkbox" id="UidCheckBox1107" value="1107" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/snp/1107" ref="ordinalpos=10&ncbi_uid=1107&link_uid=1107"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1107">rs1107</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>A,C</span><span class="for_snp_flanks" snp_info="rs1107:T/A/C:7:72948424:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>7:72948424
|
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(GRCh38)<br />7:72418963
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:72948423:T:A,NC_000007.14:72948423:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">POM121 (<a href="/variation/view/?q=rs1107"><span>Varview</span></a>), NSUN5P2 (<a href="/variation/view/?q=rs1107"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
|
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.4541264/29263
|
|
(<a id="alfa_link" href=" /snp/rs1107#frequency_tab ">ALFA</a>)<br />C=0.0224719/12
|
|
(MGP)<br />T=0.3317536/140
|
|
(SGDP_PRJ)<br />T=0.4192692/2685
|
|
(1000Genomes_30X)<br />T=0.4269169/2138
|
|
(1000Genomes)<br />T=0.4295818/113706
|
|
(TOPMED)<br />T=0.4328624/64216
|
|
(GnomAD_genomes)<br />C=0.458656/3317
|
|
(Korea4K)<br />C=0.4590611/841
|
|
(Korea1K)<br />T=0.4597715/55625
|
|
(ExAC)<br />T=0.4672917/653843
|
|
(GnomAD_exomes)<br />C=0.4691996/36332
|
|
(TOMMO)<br />C=0.4767918/1397
|
|
(KOREAN)<br />C=0.4814815/104
|
|
(Qatari)<br />T=0.4816667/289
|
|
(NorthernSweden)<br />T=0.4824453/6266
|
|
(GoESP)<br />C=0.4859719/485
|
|
(GoNL)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.72948424T>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.72948424T>A</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.72948424T>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.72948424T>C</a>, <a href=" /projects/sviewer/?id=NW_003871064.1&search=NW_003871064.1:g.477660T>A&v=1:100&content=5 " target=" _blank ">NW_003871064.1:g.477660T>A</a>, <a href=" /projects/sviewer/?id=NW_003871064.1&search=NW_003871064.1:g.477660T>C&v=1:100&content=5 " target=" _blank ">NW_003871064.1:g.477660T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.72418963T>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.72418963T>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.72418963T>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.72418963T>C</a>, <a href=" /projects/sviewer/?id=NM_001257190.3&search=NM_001257190.3:c.2954T>A&v=1:100&content=5 " target=" _blank ">NM_001257190.3:c.2954T>A</a>, <a href=" /projects/sviewer/?id=NM_001257190.3&search=NM_001257190.3:c.2954T>C&v=1:100&content=5 " target=" _blank ">NM_001257190.3:c.2954T>C</a>, <a href=" /projects/sviewer/?id=NM_001257190.2&search=NM_001257190.2:c.2954T>A&v=1:100&content=5 " target=" _blank ">NM_001257190.2:c.2954T>A</a>, <a href=" /projects/sviewer/?id=NM_001257190.2&search=NM_001257190.2:c.2954T>C&v=1:100&content=5 " target=" _blank ">NM_001257190.2:c.2954T>C</a>, <a href=" /projects/sviewer/?id=NR_033323.3&search=NR_033323.3:n.1636A>T&v=1:100&content=5 " target=" _blank ">NR_033323.3:n.1636A>T</a>, <a href=" /projects/sviewer/?id=NR_033323.3&search=NR_033323.3:n.1636A>G&v=1:100&content=5 " target=" _blank ">NR_033323.3:n.1636A>G</a>, <a href=" /projects/sviewer/?id=NM_032158.3&search=NM_032158.3:c.908A>T&v=1:100&content=5 " target=" _blank ">NM_032158.3:c.908A>T</a>, <a href=" /projects/sviewer/?id=NM_032158.3&search=NM_032158.3:c.908A>G&v=1:100&content=5 " target=" _blank ">NM_032158.3:c.908A>G</a>, <a href=" /projects/sviewer/?id=NM_032158.2&search=NM_032158.2:c.908A>T&v=1:100&content=5 " target=" _blank ">NM_032158.2:c.908A>T</a>, <a href=" /projects/sviewer/?id=NM_032158.2&search=NM_032158.2:c.908A>G&v=1:100&content=5 " target=" _blank ">NM_032158.2:c.908A>G</a>, <a href=" /projects/sviewer/?id=NM_148936.2&search=NM_148936.2:c.836A>T&v=1:100&content=5 " target=" _blank ">NM_148936.2:c.836A>T</a>, <a href=" /projects/sviewer/?id=NM_148936.2&search=NM_148936.2:c.836A>G&v=1:100&content=5 " target=" _blank ">NM_148936.2:c.836A>G</a>, <a href=" /projects/sviewer/?id=NM_014833.1&search=NM_014833.1:c.2954C>T&v=1:100&content=5 " target=" _blank ">NM_014833.1:c.2954C>T</a>, <a href=" /projects/sviewer/?id=NM_014833.1&search=NM_014833.1:c.2954C>A&v=1:100&content=5 " target=" _blank ">NM_014833.1:c.2954C>A</a>, <a href=" /projects/sviewer/?id=NM_148980.1&search=NM_148980.1:c.*310A>T&v=1:100&content=5 " target=" _blank ">NM_148980.1:c.*310A>T</a>, <a href=" /projects/sviewer/?id=NM_148980.1&search=NM_148980.1:c.*310A>G&v=1:100&content=5 " target=" _blank ">NM_148980.1:c.*310A>G</a>, <a href=" /projects/sviewer/?id=NM_149379.1&search=NM_149379.1:c.*240A>T&v=1:100&content=5 " target=" _blank ">NM_149379.1:c.*240A>T</a>, <a href=" /projects/sviewer/?id=NM_149379.1&search=NM_149379.1:c.*240A>G&v=1:100&content=5 " target=" _blank ">NM_149379.1:c.*240A>G</a>, <a href=" /projects/sviewer/?id=NM_032158.1&search=NM_032158.1:c.908G>A&v=1:100&content=5 " target=" _blank ">NM_032158.1:c.908G>A</a>, <a href=" /projects/sviewer/?id=NM_032158.1&search=NM_032158.1:c.908G>T&v=1:100&content=5 " target=" _blank ">NM_032158.1:c.908G>T</a>, <a href=" /projects/sviewer/?id=NM_148936.1&search=NM_148936.1:c.836A>T&v=1:100&content=5 " target=" _blank ">NM_148936.1:c.836A>T</a>, <a href=" /projects/sviewer/?id=NM_148936.1&search=NM_148936.1:c.836A>G&v=1:100&content=5 " target=" _blank ">NM_148936.1:c.836A>G</a>, <a href=" /projects/sviewer/?id=NM_001039487.1&search=NM_001039487.1:c.908A>T&v=1:100&content=5 " target=" _blank ">NM_001039487.1:c.908A>T</a>, <a href=" /projects/sviewer/?id=NM_001039487.1&search=NM_001039487.1:c.908A>G&v=1:100&content=5 " target=" _blank ">NM_001039487.1:c.908A>G</a>, <a href=" /projects/sviewer/?id=NP_001244119.1&search=NP_001244119.1:p.Leu985His&v=1:100&content=5 " target=" _blank ">NP_001244119.1:p.Leu985His</a>, <a href=" /projects/sviewer/?id=NP_001244119.1&search=NP_001244119.1:p.Leu985Pro&v=1:100&content=5 " target=" _blank ">NP_001244119.1:p.Leu985Pro</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=1107"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1205" class="ui-helper-hidden-accessible">Select item 1205</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="11" type="checkbox" id="UidCheckBox1205" value="1205" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/snp/1205" ref="ordinalpos=11&ncbi_uid=1205&link_uid=1205"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1205">rs1205</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>T</span><span class="for_snp_flanks" snp_info="rs1205:C/T:1:159712443:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
|
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</a></span></dd><dt>Chromosome: </dt><dd>1:159712443
|
|
(GRCh38)<br />1:159682233
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:159712442:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">CRP (<a href="/variation/view/?q=rs1205"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>uncertain-significance
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.327487/57789
|
|
(<a id="alfa_link" href=" /snp/rs1205#frequency_tab ">ALFA</a>)<br />T=0.2463/233
|
|
(PharmGKB)<br />T=0.276014/313
|
|
(Daghestan)<br />T=0.304617/80629
|
|
(TOPMED)<br />T=0.310195/46211
|
|
(GnomAD_genomes)<br />C=0.322822/25000
|
|
(TOMMO)<br />T=0.325/13
|
|
(GENOME_DK)<br />T=0.326653/326
|
|
(GoNL)<br />T=0.326667/196
|
|
(NorthernSweden)<br />T=0.328224/621
|
|
(HapMap)<br />T=0.32823/1265
|
|
(ALSPAC)<br />T=0.330906/1227
|
|
(TWINSUK)<br />T=0.333333/72
|
|
(Qatari)<br />T=0.334278/26307
|
|
(PAGE_STUDY)<br />T=0.334791/2144
|
|
(1000Genomes_30X)<br />T=0.338259/1694
|
|
(1000Genomes)<br />T=0.350852/247
|
|
(GnomAD_exomes)<br />C=0.366667/121
|
|
(SGDP_PRJ)<br />C=0.368421/14
|
|
(Siberian)<br />C=0.37282/2694
|
|
(Korea4K)<br />C=0.373379/1094
|
|
(KOREAN)<br />T=0.38683/1733
|
|
(Estonian)<br />C=0.454082/356
|
|
(PRJEB37584)<br />T=0.47619/100
|
|
(Vietnamese)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.159712443C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.159712443C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.159682233C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.159682233C>T</a>, <a href=" /projects/sviewer/?id=NG_013007.1&search=NG_013007.1:g.7147G>A&v=1:100&content=5 " target=" _blank ">NG_013007.1:g.7147G>A</a>, <a href=" /projects/sviewer/?id=NM_000567.3&search=NM_000567.3:c.*1082G>A&v=1:100&content=5 " target=" _blank ">NM_000567.3:c.*1082G>A</a>, <a href=" /projects/sviewer/?id=NM_000567.2&search=NM_000567.2:c.*1082G>A&v=1:100&content=5 " target=" _blank ">NM_000567.2:c.*1082G>A</a>, <a href=" /projects/sviewer/?id=NM_001329057.2&search=NM_001329057.2:c.*374G>A&v=1:100&content=5 " target=" _blank ">NM_001329057.2:c.*374G>A</a>, <a href=" /projects/sviewer/?id=NM_001329057.1&search=NM_001329057.1:c.*374G>A&v=1:100&content=5 " target=" _blank ">NM_001329057.1:c.*374G>A</a>, <a href=" /projects/sviewer/?id=NM_001329058.2&search=NM_001329058.2:c.*148G>A&v=1:100&content=5 " target=" _blank ">NM_001329058.2:c.*148G>A</a>, <a href=" /projects/sviewer/?id=NM_001329058.1&search=NM_001329058.1:c.*148G>A&v=1:100&content=5 " target=" _blank ">NM_001329058.1:c.*148G>A</a>, <a href=" /projects/sviewer/?id=NM_001382703.1&search=NM_001382703.1:c.*1082G>A&v=1:100&content=5 " target=" _blank ">NM_001382703.1:c.*1082G>A</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=1205"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1208" class="ui-helper-hidden-accessible">Select item 1208</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="12" type="checkbox" id="UidCheckBox1208" value="1208" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/snp/1208" ref="ordinalpos=12&ncbi_uid=1208&link_uid=1208"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1208">rs1208</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A,C,T</span><span class="for_snp_flanks" snp_info="rs1208:G/A/C/T:8:18400806:snv:1"><a class="anchor_show_flank_toggle">
|
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[Show Flanks]
|
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</a></span></dd><dt>Chromosome: </dt><dd>8:18400806
|
|
(GRCh38)<br />8:18258316
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000008.11:18400805:G:A,NC_000008.11:18400805:G:C,NC_000008.11:18400805:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">NAT2 (<a href="/variation/view/?q=rs1208"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-benign,drug-response
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">G=0.4248263/104407
|
|
(<a id="alfa_link" href=" /snp/rs1208#frequency_tab ">ALFA</a>)<br />G=0.0211604/62
|
|
(KOREAN)<br />G=0.0229258/42
|
|
(Korea1K)<br />G=0.0243363/176
|
|
(Korea4K)<br />G=0.0269031/2083
|
|
(TOMMO)<br />G=0.030303/24
|
|
(PRJEB37584)<br />G=0.0746753/46
|
|
(Vietnamese)<br />G=0.2004219/95
|
|
(SGDP_PRJ)<br />G=0.2028571/71
|
|
(PharmGKB)<br />G=0.3228834/1617
|
|
(1000Genomes)<br />G=0.3234165/674
|
|
(HGDP_Stanford)<br />G=0.325/13
|
|
(GENOME_DK)<br />G=0.3318239/2125
|
|
(1000Genomes_30X)<br />G=0.3388123/639
|
|
(HapMap)<br />G=0.33942/26711
|
|
(PAGE_STUDY)<br />G=0.3827958/45862
|
|
(ExAC)<br />G=0.3863636/17
|
|
(Siberian)<br />G=0.3925951/103916
|
|
(TOPMED)<br />G=0.4092777/572428
|
|
(GnomAD_exomes)<br />G=0.4193046/1616
|
|
(ALSPAC)<br />G=0.4282632/1588
|
|
(TWINSUK)<br />G=0.4375/133
|
|
(FINRISK)<br />G=0.4418838/441
|
|
(GoNL)<br />A=0.4438202/237
|
|
(MGP)<br />A=0.4444444/24
|
|
(PRJEB36033)<br />G=0.45/270
|
|
(NorthernSweden)<br />G=0.4504464/2018
|
|
(Estonian)<br />A=0.4861111/105
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(Qatari)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000008.11&search=NC_000008.11:g.18400806G>A&v=1:100&content=5 " target=" _blank ">NC_000008.11:g.18400806G>A</a>, <a href=" /projects/sviewer/?id=NC_000008.11&search=NC_000008.11:g.18400806G>C&v=1:100&content=5 " target=" _blank ">NC_000008.11:g.18400806G>C</a>, <a href=" /projects/sviewer/?id=NC_000008.11&search=NC_000008.11:g.18400806G>T&v=1:100&content=5 " target=" _blank ">NC_000008.11:g.18400806G>T</a>, <a href=" /projects/sviewer/?id=NC_000008.10&search=NC_000008.10:g.18258316G>A&v=1:100&content=5 " target=" _blank ">NC_000008.10:g.18258316G>A</a>, <a href=" /projects/sviewer/?id=NC_000008.10&search=NC_000008.10:g.18258316G>C&v=1:100&content=5 " target=" _blank ">NC_000008.10:g.18258316G>C</a>, <a href=" /projects/sviewer/?id=NC_000008.10&search=NC_000008.10:g.18258316G>T&v=1:100&content=5 " target=" _blank ">NC_000008.10:g.18258316G>T</a>, <a href=" /projects/sviewer/?id=NG_012246.1&search=NG_012246.1:g.14562G>A&v=1:100&content=5 " target=" _blank ">NG_012246.1:g.14562G>A</a>, <a href=" /projects/sviewer/?id=NG_012246.1&search=NG_012246.1:g.14562G>C&v=1:100&content=5 " target=" _blank ">NG_012246.1:g.14562G>C</a>, <a href=" /projects/sviewer/?id=NG_012246.1&search=NG_012246.1:g.14562G>T&v=1:100&content=5 " target=" _blank ">NG_012246.1:g.14562G>T</a>, <a href=" /projects/sviewer/?id=NM_000015.3&search=NM_000015.3:c.803G>A&v=1:100&content=5 " target=" _blank ">NM_000015.3:c.803G>A</a>, <a href=" /projects/sviewer/?id=NM_000015.3&search=NM_000015.3:c.803G>C&v=1:100&content=5 " target=" _blank ">NM_000015.3:c.803G>C</a>, <a href=" /projects/sviewer/?id=NM_000015.3&search=NM_000015.3:c.803G>T&v=1:100&content=5 " target=" _blank ">NM_000015.3:c.803G>T</a>, <a href=" /projects/sviewer/?id=NM_000015.2&search=NM_000015.2:c.803G>A&v=1:100&content=5 " target=" _blank ">NM_000015.2:c.803G>A</a>, <a href=" /projects/sviewer/?id=NM_000015.2&search=NM_000015.2:c.803G>C&v=1:100&content=5 " target=" _blank ">NM_000015.2:c.803G>C</a>, <a href=" /projects/sviewer/?id=NM_000015.2&search=NM_000015.2:c.803G>T&v=1:100&content=5 " target=" _blank ">NM_000015.2:c.803G>T</a>, <a href=" /projects/sviewer/?id=XM_017012938.2&search=XM_017012938.2:c.803G>A&v=1:100&content=5 " target=" _blank ">XM_017012938.2:c.803G>A</a>, <a href=" /projects/sviewer/?id=XM_017012938.2&search=XM_017012938.2:c.803G>C&v=1:100&content=5 " target=" _blank ">XM_017012938.2:c.803G>C</a>, <a href=" /projects/sviewer/?id=XM_017012938.2&search=XM_017012938.2:c.803G>T&v=1:100&content=5 " target=" _blank ">XM_017012938.2:c.803G>T</a>, <a href=" /projects/sviewer/?id=XM_017012938.1&search=XM_017012938.1:c.803G>A&v=1:100&content=5 " target=" _blank ">XM_017012938.1:c.803G>A</a>, <a href=" /projects/sviewer/?id=XM_017012938.1&search=XM_017012938.1:c.803G>C&v=1:100&content=5 " target=" _blank ">XM_017012938.1:c.803G>C</a>, <a href=" /projects/sviewer/?id=XM_017012938.1&search=XM_017012938.1:c.803G>T&v=1:100&content=5 " target=" _blank ">XM_017012938.1:c.803G>T</a>, <a href=" /projects/sviewer/?id=NP_000006.2&search=NP_000006.2:p.Arg268Lys&v=1:100&content=5 " target=" _blank ">NP_000006.2:p.Arg268Lys</a>, <a href=" /projects/sviewer/?id=NP_000006.2&search=NP_000006.2:p.Arg268Thr&v=1:100&content=5 " target=" _blank ">NP_000006.2:p.Arg268Thr</a>, <a href=" /projects/sviewer/?id=NP_000006.2&search=NP_000006.2:p.Arg268Ile&v=1:100&content=5 " target=" _blank ">NP_000006.2:p.Arg268Ile</a>, <a href=" /projects/sviewer/?id=XP_016868427.1&search=XP_016868427.1:p.Arg268Lys&v=1:100&content=5 " target=" _blank ">XP_016868427.1:p.Arg268Lys</a>, <a href=" /projects/sviewer/?id=XP_016868427.1&search=XP_016868427.1:p.Arg268Thr&v=1:100&content=5 " target=" _blank ">XP_016868427.1:p.Arg268Thr</a>, <a href=" /projects/sviewer/?id=XP_016868427.1&search=XP_016868427.1:p.Arg268Ile&v=1:100&content=5 " target=" _blank ">XP_016868427.1:p.Arg268Ile</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=1208"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1230" class="ui-helper-hidden-accessible">Select item 1230</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="13" type="checkbox" id="UidCheckBox1230" value="1230" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/snp/1230" ref="ordinalpos=13&ncbi_uid=1230&link_uid=1230"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1230">rs1230</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>A,G,T</span><span class="for_snp_flanks" snp_info="rs1230:C/A/G/T:16:89738447:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>16:89738447
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(GRCh38)<br />16:89804855
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000016.10:89738446:C:A,NC_000016.10:89738446:C:G,NC_000016.10:89738446:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">FANCA (<a href="/variation/view/?q=rs1230"><span>Varview</span></a>), ZNF276 (<a href="/variation/view/?q=rs1230"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.410049/33478
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(<a id="alfa_link" href=" /snp/rs1230#frequency_tab ">ALFA</a>)<br />C=0.018692/4
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(Vietnamese)<br />C=0.020465/148
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(Korea4K)<br />C=0.020819/61
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(KOREAN)<br />C=0.022926/42
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(Korea1K)<br />C=0.025941/2009
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(TOMMO)<br />C=0.16886/77
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(SGDP_PRJ)<br />T=0.190476/8
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(PRJEB36033)<br />C=0.214286/9
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(Siberian)<br />C=0.297985/562
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(HapMap)<br />C=0.302316/1514
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(1000Genomes)<br />C=0.30356/1944
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(1000Genomes_30X)<br />T=0.361111/78
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(Qatari)<br />C=0.377885/786
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(HGDP_Stanford)<br />T=0.387776/387
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(GoNL)<br />T=0.4/16
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(GENOME_DK)<br />T=0.403217/1554
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(ALSPAC)<br />T=0.418557/85836
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(GENOGRAPHIC)<br />T=0.41942/1879
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(Estonian)<br />T=0.423333/254
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(NorthernSweden)<br />T=0.430151/1595
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(TWINSUK)<br />C=0.44755/118462
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(TOPMED)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000016.10&search=NC_000016.10:g.89738447C>A&v=1:100&content=5 " target=" _blank ">NC_000016.10:g.89738447C>A</a>, <a href=" /projects/sviewer/?id=NC_000016.10&search=NC_000016.10:g.89738447C>G&v=1:100&content=5 " target=" _blank ">NC_000016.10:g.89738447C>G</a>, <a href=" /projects/sviewer/?id=NC_000016.10&search=NC_000016.10:g.89738447C>T&v=1:100&content=5 " target=" _blank ">NC_000016.10:g.89738447C>T</a>, <a href=" /projects/sviewer/?id=NC_000016.9&search=NC_000016.9:g.89804855C>A&v=1:100&content=5 " target=" _blank ">NC_000016.9:g.89804855C>A</a>, <a href=" /projects/sviewer/?id=NC_000016.9&search=NC_000016.9:g.89804855C>G&v=1:100&content=5 " target=" _blank ">NC_000016.9:g.89804855C>G</a>, <a href=" /projects/sviewer/?id=NC_000016.9&search=NC_000016.9:g.89804855C>T&v=1:100&content=5 " target=" _blank ">NC_000016.9:g.89804855C>T</a>, <a href=" /projects/sviewer/?id=NG_011706.1&search=NG_011706.1:g.83211G>T&v=1:100&content=5 " target=" _blank ">NG_011706.1:g.83211G>T</a>, <a href=" /projects/sviewer/?id=NG_011706.1&search=NG_011706.1:g.83211G>C&v=1:100&content=5 " target=" _blank ">NG_011706.1:g.83211G>C</a>, <a href=" /projects/sviewer/?id=NG_011706.1&search=NG_011706.1:g.83211G>A&v=1:100&content=5 " target=" _blank ">NG_011706.1:g.83211G>A</a>, <a href=" /projects/sviewer/?id=NM_000135.4&search=NM_000135.4:c.*154G>T&v=1:100&content=5 " target=" _blank ">NM_000135.4:c.*154G>T</a>, <a href=" /projects/sviewer/?id=NM_000135.4&search=NM_000135.4:c.*154G>C&v=1:100&content=5 " target=" _blank ">NM_000135.4:c.*154G>C</a>, <a href=" /projects/sviewer/?id=NM_000135.4&search=NM_000135.4:c.*154G>A&v=1:100&content=5 " target=" _blank ">NM_000135.4:c.*154G>A</a>, <a href=" /projects/sviewer/?id=NM_000135.3&search=NM_000135.3:c.*154G>T&v=1:100&content=5 " target=" _blank ">NM_000135.3:c.*154G>T</a>, <a href=" /projects/sviewer/?id=NM_000135.3&search=NM_000135.3:c.*154G>C&v=1:100&content=5 " target=" _blank ">NM_000135.3:c.*154G>C</a>, <a href=" /projects/sviewer/?id=NM_000135.3&search=NM_000135.3:c.*154G>A&v=1:100&content=5 " target=" _blank ">NM_000135.3:c.*154G>A</a>, <a href=" /projects/sviewer/?id=NM_000135.2&search=NM_000135.2:c.*154G>T&v=1:100&content=5 " target=" _blank ">NM_000135.2:c.*154G>T</a>, <a href=" /projects/sviewer/?id=NM_000135.2&search=NM_000135.2:c.*154G>C&v=1:100&content=5 " target=" _blank ">NM_000135.2:c.*154G>C</a>, <a href=" /projects/sviewer/?id=NM_000135.2&search=NM_000135.2:c.*154G>A&v=1:100&content=5 " target=" _blank ">NM_000135.2:c.*154G>A</a>, <a href=" /projects/sviewer/?id=NM_001286167.3&search=NM_001286167.3:c.*251G>T&v=1:100&content=5 " target=" _blank ">NM_001286167.3:c.*251G>T</a>, <a href=" /projects/sviewer/?id=NM_001286167.3&search=NM_001286167.3:c.*251G>C&v=1:100&content=5 " target=" _blank ">NM_001286167.3:c.*251G>C</a>, <a href=" /projects/sviewer/?id=NM_001286167.3&search=NM_001286167.3:c.*251G>A&v=1:100&content=5 " target=" _blank ">NM_001286167.3:c.*251G>A</a>, <a href=" /projects/sviewer/?id=NM_001286167.2&search=NM_001286167.2:c.*251G>T&v=1:100&content=5 " target=" _blank ">NM_001286167.2:c.*251G>T</a>, <a href=" /projects/sviewer/?id=NM_001286167.2&search=NM_001286167.2:c.*251G>C&v=1:100&content=5 " target=" _blank ">NM_001286167.2:c.*251G>C</a>, <a href=" /projects/sviewer/?id=NM_001286167.2&search=NM_001286167.2:c.*251G>A&v=1:100&content=5 " target=" _blank ">NM_001286167.2:c.*251G>A</a>, <a href=" /projects/sviewer/?id=NM_001286167.1&search=NM_001286167.1:c.*251G>T&v=1:100&content=5 " target=" _blank ">NM_001286167.1:c.*251G>T</a>, <a href=" /projects/sviewer/?id=NM_001286167.1&search=NM_001286167.1:c.*251G>C&v=1:100&content=5 " target=" _blank ">NM_001286167.1:c.*251G>C</a>, <a href=" /projects/sviewer/?id=NM_001286167.1&search=NM_001286167.1:c.*251G>A&v=1:100&content=5 " target=" _blank ">NM_001286167.1:c.*251G>A</a>, <a href=" /projects/sviewer/?id=NM_152287.4&search=NM_152287.4:c.*201C>A&v=1:100&content=5 " target=" _blank ">NM_152287.4:c.*201C>A</a>, <a href=" /projects/sviewer/?id=NM_152287.4&search=NM_152287.4:c.*201C>G&v=1:100&content=5 " target=" _blank ">NM_152287.4:c.*201C>G</a>, <a href=" /projects/sviewer/?id=NM_152287.4&search=NM_152287.4:c.*201C>T&v=1:100&content=5 " target=" _blank ">NM_152287.4:c.*201C>T</a>, <a href=" /projects/sviewer/?id=NM_152287.3&search=NM_152287.3:c.*201C>A&v=1:100&content=5 " target=" _blank ">NM_152287.3:c.*201C>A</a>, <a href=" /projects/sviewer/?id=NM_152287.3&search=NM_152287.3:c.*201C>G&v=1:100&content=5 " target=" _blank ">NM_152287.3:c.*201C>G</a>, <a href=" /projects/sviewer/?id=NM_152287.3&search=NM_152287.3:c.*201C>T&v=1:100&content=5 " target=" _blank ">NM_152287.3:c.*201C>T</a>, <a href=" /projects/sviewer/?id=XM_005256324.4&search=XM_005256324.4:c.*201C>A&v=1:100&content=5 " target=" _blank ">XM_005256324.4:c.*201C>A</a>, <a href=" /projects/sviewer/?id=XM_005256324.4&search=XM_005256324.4:c.*201C>G&v=1:100&content=5 " target=" _blank ">XM_005256324.4:c.*201C>G</a>, <a href=" /projects/sviewer/?id=XM_005256324.4&search=XM_005256324.4:c.*201C>T&v=1:100&content=5 " target=" _blank ">XM_005256324.4:c.*201C>T</a>, <a href=" /projects/sviewer/?id=XM_005256324.3&search=XM_005256324.3:c.*201C>A&v=1:100&content=5 " target=" _blank ">XM_005256324.3:c.*201C>A</a>, <a href=" /projects/sviewer/?id=XM_005256324.3&search=XM_005256324.3:c.*201C>G&v=1:100&content=5 " target=" _blank ">XM_005256324.3:c.*201C>G</a>, <a href=" /projects/sviewer/?id=XM_005256324.3&search=XM_005256324.3:c.*201C>T&v=1:100&content=5 " target=" _blank ">XM_005256324.3:c.*201C>T</a>, <a href=" /projects/sviewer/?id=XM_005256324.2&search=XM_005256324.2:c.*201C>A&v=1:100&content=5 " target=" _blank ">XM_005256324.2:c.*201C>A</a>, <a href=" /projects/sviewer/?id=XM_005256324.2&search=XM_005256324.2:c.*201C>G&v=1:100&content=5 " target=" _blank ">XM_005256324.2:c.*201C>G</a>, <a href=" /projects/sviewer/?id=XM_005256324.2&search=XM_005256324.2:c.*201C>T&v=1:100&content=5 " target=" _blank ">XM_005256324.2:c.*201C>T</a>, <a href=" /projects/sviewer/?id=XM_005256324.1&search=XM_005256324.1:c.*201C>A&v=1:100&content=5 " target=" _blank ">XM_005256324.1:c.*201C>A</a>, <a href=" /projects/sviewer/?id=XM_005256324.1&search=XM_005256324.1:c.*201C>G&v=1:100&content=5 " target=" _blank ">XM_005256324.1:c.*201C>G</a>, <a href=" /projects/sviewer/?id=XM_005256324.1&search=XM_005256324.1:c.*201C>T&v=1:100&content=5 " target=" _blank ">XM_005256324.1:c.*201C>T</a>, <a href=" /projects/sviewer/?id=NR_110122.2&search=NR_110122.2:n.2201C>A&v=1:100&content=5 " target=" _blank ">NR_110122.2:n.2201C>A</a>, <a href=" /projects/sviewer/?id=NR_110122.2&search=NR_110122.2:n.2201C>G&v=1:100&content=5 " target=" _blank ">NR_110122.2:n.2201C>G</a>, <a href=" /projects/sviewer/?id=NR_110122.2&search=NR_110122.2:n.2201C>T&v=1:100&content=5 " target=" _blank ">NR_110122.2:n.2201C>T</a>, <a href=" /projects/sviewer/?id=NR_110122.1&search=NR_110122.1:n.2218C>A&v=1:100&content=5 " target=" _blank ">NR_110122.1:n.2218C>A</a>, <a href=" /projects/sviewer/?id=NR_110122.1&search=NR_110122.1:n.2218C>G&v=1:100&content=5 " target=" _blank ">NR_110122.1:n.2218C>G</a>, <a href=" /projects/sviewer/?id=NR_110122.1&search=NR_110122.1:n.2218C>T&v=1:100&content=5 " target=" _blank ">NR_110122.1:n.2218C>T</a>, <a href=" /projects/sviewer/?id=NM_001113525.2&search=NM_001113525.2:c.*201C>A&v=1:100&content=5 " target=" _blank ">NM_001113525.2:c.*201C>A</a>, <a href=" /projects/sviewer/?id=NM_001113525.2&search=NM_001113525.2:c.*201C>G&v=1:100&content=5 " target=" _blank ">NM_001113525.2:c.*201C>G</a>, <a href=" /projects/sviewer/?id=NM_001113525.2&search=NM_001113525.2:c.*201C>T&v=1:100&content=5 " target=" _blank ">NM_001113525.2:c.*201C>T</a>, <a href=" /projects/sviewer/?id=NM_001113525.1&search=NM_001113525.1:c.*201C>A&v=1:100&content=5 " target=" _blank ">NM_001113525.1:c.*201C>A</a>, <a href=" /projects/sviewer/?id=NM_001113525.1&search=NM_001113525.1:c.*201C>G&v=1:100&content=5 " target=" _blank ">NM_001113525.1:c.*201C>G</a>, <a href=" /projects/sviewer/?id=NM_001113525.1&search=NM_001113525.1:c.*201C>T&v=1:100&content=5 " target=" _blank ">NM_001113525.1:c.*201C>T</a>, <a href=" /projects/sviewer/?id=NR_110129.2&search=NR_110129.2:n.2118C>A&v=1:100&content=5 " target=" _blank ">NR_110129.2:n.2118C>A</a>, <a href=" /projects/sviewer/?id=NR_110129.2&search=NR_110129.2:n.2118C>G&v=1:100&content=5 " target=" _blank ">NR_110129.2:n.2118C>G</a>, <a href=" /projects/sviewer/?id=NR_110129.2&search=NR_110129.2:n.2118C>T&v=1:100&content=5 " target=" _blank ">NR_110129.2:n.2118C>T</a>, <a href=" /projects/sviewer/?id=NR_110129.1&search=NR_110129.1:n.2113C>A&v=1:100&content=5 " target=" _blank ">NR_110129.1:n.2113C>A</a>, <a href=" /projects/sviewer/?id=NR_110129.1&search=NR_110129.1:n.2113C>G&v=1:100&content=5 " target=" _blank ">NR_110129.1:n.2113C>G</a>, <a href=" /projects/sviewer/?id=NR_110129.1&search=NR_110129.1:n.2113C>T&v=1:100&content=5 " target=" _blank ">NR_110129.1:n.2113C>T</a>, <a href=" /projects/sviewer/?id=NR_110126.2&search=NR_110126.2:n.2084C>A&v=1:100&content=5 " target=" _blank ">NR_110126.2:n.2084C>A</a>, <a href=" /projects/sviewer/?id=NR_110126.2&search=NR_110126.2:n.2084C>G&v=1:100&content=5 " target=" _blank ">NR_110126.2:n.2084C>G</a>, <a href=" /projects/sviewer/?id=NR_110126.2&search=NR_110126.2:n.2084C>T&v=1:100&content=5 " target=" _blank ">NR_110126.2:n.2084C>T</a>, <a href=" /projects/sviewer/?id=NR_110126.1&search=NR_110126.1:n.2101C>A&v=1:100&content=5 " target=" _blank ">NR_110126.1:n.2101C>A</a>, <a href=" /projects/sviewer/?id=NR_110126.1&search=NR_110126.1:n.2101C>G&v=1:100&content=5 " target=" _blank ">NR_110126.1:n.2101C>G</a>, <a href=" /projects/sviewer/?id=NR_110126.1&search=NR_110126.1:n.2101C>T&v=1:100&content=5 " target=" _blank ">NR_110126.1:n.2101C>T</a>, <a href=" /projects/sviewer/?id=NR_110128.2&search=NR_110128.2:n.2024C>A&v=1:100&content=5 " target=" _blank ">NR_110128.2:n.2024C>A</a>, <a href=" /projects/sviewer/?id=NR_110128.2&search=NR_110128.2:n.2024C>G&v=1:100&content=5 " target=" _blank ">NR_110128.2:n.2024C>G</a>, <a href=" /projects/sviewer/?id=NR_110128.2&search=NR_110128.2:n.2024C>T&v=1:100&content=5 " target=" _blank ">NR_110128.2:n.2024C>T</a>, <a href=" /projects/sviewer/?id=NR_110128.1&search=NR_110128.1:n.2024C>A&v=1:100&content=5 " target=" _blank ">NR_110128.1:n.2024C>A</a>, <a href=" /projects/sviewer/?id=NR_110128.1&search=NR_110128.1:n.2024C>G&v=1:100&content=5 " target=" _blank ">NR_110128.1:n.2024C>G</a>, <a href=" /projects/sviewer/?id=NR_110128.1&search=NR_110128.1:n.2024C>T&v=1:100&content=5 " target=" _blank ">NR_110128.1:n.2024C>T</a>, <a href=" /projects/sviewer/?id=XM_047434901.1&search=XM_047434901.1:c.*201C>A&v=1:100&content=5 " target=" _blank ">XM_047434901.1:c.*201C>A</a>, <a href=" /projects/sviewer/?id=XM_047434901.1&search=XM_047434901.1:c.*201C>G&v=1:100&content=5 " target=" _blank ">XM_047434901.1:c.*201C>G</a>, <a href=" /projects/sviewer/?id=XM_047434901.1&search=XM_047434901.1:c.*201C>T&v=1:100&content=5 " target=" _blank ">XM_047434901.1:c.*201C>T</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1270" class="ui-helper-hidden-accessible">Select item 1270</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="14" type="checkbox" id="UidCheckBox1270" value="1270" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/snp/1270" ref="ordinalpos=14&ncbi_uid=1270&link_uid=1270"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1270">rs1270</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>A,C,G</span><span class="for_snp_flanks" snp_info="rs1270:T/A/C/G:1:156594106:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>1:156594106
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(GRCh38)<br />1:156563898
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:156594105:T:A,NC_000001.11:156594105:T:C,NC_000001.11:156594105:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">GPATCH4 (<a href="/variation/view/?q=rs1270"><span>Varview</span></a>), NAXE (<a href="/variation/view/?q=rs1270"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.0545182/1670
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(<a id="alfa_link" href=" /snp/rs1270#frequency_tab ">ALFA</a>)<br />T=0./0
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(GENOME_DK)<br />G=0./0
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(KOREAN)<br />T=0.0138889/3
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(Vietnamese)<br />T=0.0172129/1333
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(TOMMO)<br />T=0.0178571/1
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(Siberian)<br />T=0.0190381/19
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(GoNL)<br />T=0.02/12
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(NorthernSweden)<br />T=0.0273707/198
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(Korea4K)<br />T=0.0307443/114
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(TWINSUK)<br />T=0.0328947/10
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(FINRISK)<br />T=0.0336829/47143
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(GnomAD_exomes)<br />T=0.0339907/131
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(ALSPAC)<br />T=0.0377232/169
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(Estonian)<br />T=0.0448624/5441
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(ExAC)<br />T=0.0486891/26
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(MGP)<br />T=0.0507246/28
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(SGDP_PRJ)<br />T=0.0640831/9563
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(GnomAD_genomes)<br />T=0.066726/75
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(Daghestan)<br />T=0.0675016/17867
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(TOPMED)<br />T=0.0703521/915
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(GoESP)<br />T=0.0714856/358
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(1000Genomes)<br />T=0.0735478/471
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(1000Genomes_30X)<br />T=0.087963/19
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(Qatari)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156594106T>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156594106T>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156594106T>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156594106T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156594106T>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156594106T>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156563898T>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156563898T>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156563898T>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156563898T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156563898T>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156563898T>G</a>, <a href=" /projects/sviewer/?id=NG_052542.1&search=NG_052542.1:g.7341T>A&v=1:100&content=5 " target=" _blank ">NG_052542.1:g.7341T>A</a>, <a href=" /projects/sviewer/?id=NG_052542.1&search=NG_052542.1:g.7341T>C&v=1:100&content=5 " target=" _blank ">NG_052542.1:g.7341T>C</a>, <a href=" /projects/sviewer/?id=NG_052542.1&search=NG_052542.1:g.7341T>G&v=1:100&content=5 " target=" _blank ">NG_052542.1:g.7341T>G</a>, <a href=" /projects/sviewer/?id=NM_144772.3&search=NM_144772.3:c.*22T>A&v=1:100&content=5 " target=" _blank ">NM_144772.3:c.*22T>A</a>, <a href=" /projects/sviewer/?id=NM_144772.3&search=NM_144772.3:c.*22T>C&v=1:100&content=5 " target=" _blank ">NM_144772.3:c.*22T>C</a>, <a href=" /projects/sviewer/?id=NM_144772.3&search=NM_144772.3:c.*22T>G&v=1:100&content=5 " target=" _blank ">NM_144772.3:c.*22T>G</a>, <a href=" /projects/sviewer/?id=NM_144772.2&search=NM_144772.2:c.*22T>A&v=1:100&content=5 " target=" _blank ">NM_144772.2:c.*22T>A</a>, <a href=" /projects/sviewer/?id=NM_144772.2&search=NM_144772.2:c.*22T>C&v=1:100&content=5 " target=" _blank ">NM_144772.2:c.*22T>C</a>, <a href=" /projects/sviewer/?id=NM_144772.2&search=NM_144772.2:c.*22T>G&v=1:100&content=5 " target=" _blank ">NM_144772.2:c.*22T>G</a>, <a href=" /projects/sviewer/?id=NW_025791758.1&search=NW_025791758.1:g.152663T>A&v=1:100&content=5 " target=" _blank ">NW_025791758.1:g.152663T>A</a>, <a href=" /projects/sviewer/?id=NW_025791758.1&search=NW_025791758.1:g.152663T>C&v=1:100&content=5 " target=" _blank ">NW_025791758.1:g.152663T>C</a>, <a href=" /projects/sviewer/?id=NW_025791758.1&search=NW_025791758.1:g.152663T>G&v=1:100&content=5 " target=" _blank ">NW_025791758.1:g.152663T>G</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1271" class="ui-helper-hidden-accessible">Select item 1271</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="15" type="checkbox" id="UidCheckBox1271" value="1271" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/snp/1271" ref="ordinalpos=15&ncbi_uid=1271&link_uid=1271"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1271">rs1271</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>A,G,T</span><span class="for_snp_flanks" snp_info="rs1271:C/A/G/T:1:156594200:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>1:156594200
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(GRCh38)<br />1:156563992
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:156594199:C:A,NC_000001.11:156594199:C:G,NC_000001.11:156594199:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">GPATCH4 (<a href="/variation/view/?q=rs1271"><span>Varview</span></a>), NAXE (<a href="/variation/view/?q=rs1271"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">C=0.048753/864
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(<a id="alfa_link" href=" /snp/rs1271#frequency_tab ">ALFA</a>)<br />C=0./0
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(GENOME_DK)<br />T=0./0
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(KOREAN)<br />C=0.014151/3
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(Vietnamese)<br />C=0.017226/1334
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(TOMMO)<br />C=0.017857/1
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(Siberian)<br />C=0.02/12
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(NorthernSweden)<br />C=0.02004/20
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(GoNL)<br />C=0.02668/193
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(Korea4K)<br />C=0.030744/114
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(TWINSUK)<br />C=0.033991/131
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(ALSPAC)<br />C=0.037412/33296
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(GnomAD_exomes)<br />C=0.037946/170
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(Estonian)<br />C=0.050725/28
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(SGDP_PRJ)<br />C=0.064008/9553
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(GnomAD_genomes)<br />C=0.067449/17853
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(TOPMED)<br />C=0.071486/358
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(1000Genomes)<br />C=0.073548/471
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(1000Genomes_30X)<br />C=0.087879/29
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(HapMap)<br />C=0.087963/19
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(Qatari)<br />G=0.32397/173
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(MGP)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156594200C>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156594200C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156594200C>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156594200C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156594200C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156594200C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156563992C>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156563992C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156563992C>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156563992C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156563992C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156563992C>T</a>, <a href=" /projects/sviewer/?id=NG_052542.1&search=NG_052542.1:g.7435C>A&v=1:100&content=5 " target=" _blank ">NG_052542.1:g.7435C>A</a>, <a href=" /projects/sviewer/?id=NG_052542.1&search=NG_052542.1:g.7435C>G&v=1:100&content=5 " target=" _blank ">NG_052542.1:g.7435C>G</a>, <a href=" /projects/sviewer/?id=NG_052542.1&search=NG_052542.1:g.7435C>T&v=1:100&content=5 " target=" _blank ">NG_052542.1:g.7435C>T</a>, <a href=" /projects/sviewer/?id=NM_144772.3&search=NM_144772.3:c.*116C>A&v=1:100&content=5 " target=" _blank ">NM_144772.3:c.*116C>A</a>, <a href=" /projects/sviewer/?id=NM_144772.3&search=NM_144772.3:c.*116C>G&v=1:100&content=5 " target=" _blank ">NM_144772.3:c.*116C>G</a>, <a href=" /projects/sviewer/?id=NM_144772.3&search=NM_144772.3:c.*116C>T&v=1:100&content=5 " target=" _blank ">NM_144772.3:c.*116C>T</a>, <a href=" /projects/sviewer/?id=NM_144772.2&search=NM_144772.2:c.*116C>A&v=1:100&content=5 " target=" _blank ">NM_144772.2:c.*116C>A</a>, <a href=" /projects/sviewer/?id=NM_144772.2&search=NM_144772.2:c.*116C>G&v=1:100&content=5 " target=" _blank ">NM_144772.2:c.*116C>G</a>, <a href=" /projects/sviewer/?id=NM_144772.2&search=NM_144772.2:c.*116C>T&v=1:100&content=5 " target=" _blank ">NM_144772.2:c.*116C>T</a>, <a href=" /projects/sviewer/?id=NW_025791758.1&search=NW_025791758.1:g.152757C>A&v=1:100&content=5 " target=" _blank ">NW_025791758.1:g.152757C>A</a>, <a href=" /projects/sviewer/?id=NW_025791758.1&search=NW_025791758.1:g.152757C>G&v=1:100&content=5 " target=" _blank ">NW_025791758.1:g.152757C>G</a>, <a href=" /projects/sviewer/?id=NW_025791758.1&search=NW_025791758.1:g.152757C>T&v=1:100&content=5 " target=" _blank ">NW_025791758.1:g.152757C>T</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1384" class="ui-helper-hidden-accessible">Select item 1384</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="16" type="checkbox" id="UidCheckBox1384" value="1384" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/snp/1384" ref="ordinalpos=16&ncbi_uid=1384&link_uid=1384"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1384">rs1384</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>G,T</span><span class="for_snp_flanks" snp_info="rs1384:C/G/T:12:69354054:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>12:69354054
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(GRCh38)<br />12:69747834
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000012.12:69354053:C:G,NC_000012.12:69354053:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">LYZ (<a href="/variation/view/?q=rs1384"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.479098/69588
|
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(<a id="alfa_link" href=" /snp/rs1384#frequency_tab ">ALFA</a>)<br />C=0.267857/105
|
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(SGDP_PRJ)<br />C=0.295574/2137
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(Korea4K)<br />C=0.296943/544
|
|
(Korea1K)<br />C=0.303413/889
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(KOREAN)<br />C=0.303738/65
|
|
(Vietnamese)<br />C=0.321135/24870
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|
(TOMMO)<br />C=0.347826/16
|
|
(Siberian)<br />T=0.375/15
|
|
(GENOME_DK)<br />T=0.396186/748
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(HapMap)<br />T=0.406358/107559
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(TOPMED)<br />T=0.414683/61748
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(GnomAD_genomes)<br />C=0.455804/2042
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(Estonian)<br />T=0.456667/274
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(NorthernSweden)<br />T=0.458151/2934
|
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(1000Genomes_30X)<br />T=0.458333/99
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|
(Qatari)<br />T=0.46865/2347
|
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(1000Genomes)<br />T=0.481964/481
|
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(GoNL)<br />C=0.492988/1828
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(TWINSUK)<br />T=0.496367/1913
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(ALSPAC)<br />C=0.5/1
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(GnomAD_exomes)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000012.12&search=NC_000012.12:g.69354054C>G&v=1:100&content=5 " target=" _blank ">NC_000012.12:g.69354054C>G</a>, <a href=" /projects/sviewer/?id=NC_000012.12&search=NC_000012.12:g.69354054C>T&v=1:100&content=5 " target=" _blank ">NC_000012.12:g.69354054C>T</a>, <a href=" /projects/sviewer/?id=NC_000012.11&search=NC_000012.11:g.69747834C>G&v=1:100&content=5 " target=" _blank ">NC_000012.11:g.69747834C>G</a>, <a href=" /projects/sviewer/?id=NC_000012.11&search=NC_000012.11:g.69747834C>T&v=1:100&content=5 " target=" _blank ">NC_000012.11:g.69747834C>T</a>, <a href=" /projects/sviewer/?id=NG_008195.1&search=NG_008195.1:g.10701C>G&v=1:100&content=5 " target=" _blank ">NG_008195.1:g.10701C>G</a>, <a href=" /projects/sviewer/?id=NG_008195.1&search=NG_008195.1:g.10701C>T&v=1:100&content=5 " target=" _blank ">NG_008195.1:g.10701C>T</a>, <a href=" /projects/sviewer/?id=NM_000239.3&search=NM_000239.3:c.*835C>G&v=1:100&content=5 " target=" _blank ">NM_000239.3:c.*835C>G</a>, <a href=" /projects/sviewer/?id=NM_000239.3&search=NM_000239.3:c.*835C>T&v=1:100&content=5 " target=" _blank ">NM_000239.3:c.*835C>T</a>, <a href=" /projects/sviewer/?id=NM_000239.2&search=NM_000239.2:c.*835C>G&v=1:100&content=5 " target=" _blank ">NM_000239.2:c.*835C>G</a>, <a href=" /projects/sviewer/?id=NM_000239.2&search=NM_000239.2:c.*835C>T&v=1:100&content=5 " target=" _blank ">NM_000239.2:c.*835C>T</a></span></div></dd>
|
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1395" class="ui-helper-hidden-accessible">Select item 1395</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="17" type="checkbox" id="UidCheckBox1395" value="1395" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/snp/1395" ref="ordinalpos=17&ncbi_uid=1395&link_uid=1395"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1395">rs1395</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A,T</span><span class="for_snp_flanks" snp_info="rs1395:G/A/T:2:27201768:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>2:27201768
|
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(GRCh38)<br />2:27424636
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000002.12:27201767:G:A,NC_000002.12:27201767:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">SLC5A6 (<a href="/variation/view/?q=rs1395"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
|
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">G=0.3275907/126889
|
|
(<a id="alfa_link" href=" /snp/rs1395#frequency_tab ">ALFA</a>)<br />G=0.1011311/7832
|
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(TOMMO)<br />G=0.1280738/375
|
|
(KOREAN)<br />G=0.1300498/940
|
|
(Korea4K)<br />G=0.135101/107
|
|
(PRJEB37584)<br />G=0.1370087/251
|
|
(Korea1K)<br />G=0.1710098/105
|
|
(Vietnamese)<br />G=0.2/8
|
|
(GENOME_DK)<br />G=0.2429907/104
|
|
(SGDP_PRJ)<br />G=0.2432432/18
|
|
(PRJEB36033)<br />G=0.2678571/15
|
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(Siberian)<br />G=0.2763158/84
|
|
(FINRISK)<br />G=0.28452/1055
|
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(TWINSUK)<br />G=0.2963155/1142
|
|
(ALSPAC)<br />G=0.3029018/1357
|
|
(Estonian)<br />G=0.3126253/312
|
|
(GoNL)<br />G=0.3262117/457093
|
|
(GnomAD_exomes)<br />G=0.3407821/122
|
|
(PharmGKB)<br />G=0.3689139/197
|
|
(MGP)<br />G=0.37/222
|
|
(NorthernSweden)<br />G=0.380716/46091
|
|
(ExAC)<br />A=0.4400986/34634
|
|
(PAGE_STUDY)<br />G=0.4461092/66489
|
|
(GnomAD_genomes)<br />G=0.4520154/942
|
|
(HGDP_Stanford)<br />A=0.4583333/99
|
|
(Qatari)<br />G=0.4586345/5965
|
|
(GoESP)<br />G=0.4674521/2341
|
|
(1000Genomes)<br />G=0.4743549/125557
|
|
(TOPMED)<br />G=0.4803248/3076
|
|
(1000Genomes_30X)<br />A=0.4962845/935
|
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(HapMap)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000002.12&search=NC_000002.12:g.27201768G>A&v=1:100&content=5 " target=" _blank ">NC_000002.12:g.27201768G>A</a>, <a href=" /projects/sviewer/?id=NC_000002.12&search=NC_000002.12:g.27201768G>T&v=1:100&content=5 " target=" _blank ">NC_000002.12:g.27201768G>T</a>, <a href=" /projects/sviewer/?id=NC_000002.11&search=NC_000002.11:g.27424636G>A&v=1:100&content=5 " target=" _blank ">NC_000002.11:g.27424636G>A</a>, <a href=" /projects/sviewer/?id=NC_000002.11&search=NC_000002.11:g.27424636G>T&v=1:100&content=5 " target=" _blank ">NC_000002.11:g.27424636G>T</a>, <a href=" /projects/sviewer/?id=NM_021095.4&search=NM_021095.4:c.1442C>T&v=1:100&content=5 " target=" _blank ">NM_021095.4:c.1442C>T</a>, <a href=" /projects/sviewer/?id=NM_021095.4&search=NM_021095.4:c.1442C>A&v=1:100&content=5 " target=" _blank ">NM_021095.4:c.1442C>A</a>, <a href=" /projects/sviewer/?id=NM_021095.3&search=NM_021095.3:c.1442C>T&v=1:100&content=5 " target=" _blank ">NM_021095.3:c.1442C>T</a>, <a href=" /projects/sviewer/?id=NM_021095.3&search=NM_021095.3:c.1442C>A&v=1:100&content=5 " target=" _blank ">NM_021095.3:c.1442C>A</a>, <a href=" /projects/sviewer/?id=NM_021095.2&search=NM_021095.2:c.1442C>T&v=1:100&content=5 " target=" _blank ">NM_021095.2:c.1442C>T</a>, <a href=" /projects/sviewer/?id=NM_021095.2&search=NM_021095.2:c.1442C>A&v=1:100&content=5 " target=" _blank ">NM_021095.2:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_006712128.3&search=XM_006712128.3:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_006712128.3:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_006712128.3&search=XM_006712128.3:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_006712128.3:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_006712128.2&search=XM_006712128.2:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_006712128.2:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_006712128.2&search=XM_006712128.2:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_006712128.2:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_006712128.1&search=XM_006712128.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_006712128.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_006712128.1&search=XM_006712128.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_006712128.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XR_001739024.3&search=XR_001739024.3:n.1885C>T&v=1:100&content=5 " target=" _blank ">XR_001739024.3:n.1885C>T</a>, <a href=" /projects/sviewer/?id=XR_001739024.3&search=XR_001739024.3:n.1885C>A&v=1:100&content=5 " target=" _blank ">XR_001739024.3:n.1885C>A</a>, <a href=" /projects/sviewer/?id=XR_001739024.2&search=XR_001739024.2:n.1735C>T&v=1:100&content=5 " target=" _blank ">XR_001739024.2:n.1735C>T</a>, <a href=" /projects/sviewer/?id=XR_001739024.2&search=XR_001739024.2:n.1735C>A&v=1:100&content=5 " target=" _blank ">XR_001739024.2:n.1735C>A</a>, <a href=" /projects/sviewer/?id=XR_001739024.1&search=XR_001739024.1:n.1724C>T&v=1:100&content=5 " target=" _blank ">XR_001739024.1:n.1724C>T</a>, <a href=" /projects/sviewer/?id=XR_001739024.1&search=XR_001739024.1:n.1724C>A&v=1:100&content=5 " target=" _blank ">XR_001739024.1:n.1724C>A</a>, <a href=" /projects/sviewer/?id=XM_006712129.2&search=XM_006712129.2:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_006712129.2:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_006712129.2&search=XM_006712129.2:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_006712129.2:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_006712129.1&search=XM_006712129.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_006712129.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_006712129.1&search=XM_006712129.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_006712129.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=NR_028323.2&search=NR_028323.2:n.2250C>T&v=1:100&content=5 " target=" _blank ">NR_028323.2:n.2250C>T</a>, <a href=" /projects/sviewer/?id=NR_028323.2&search=NR_028323.2:n.2250C>A&v=1:100&content=5 " target=" _blank ">NR_028323.2:n.2250C>A</a>, <a href=" /projects/sviewer/?id=NR_028323.1&search=NR_028323.1:n.2289C>T&v=1:100&content=5 " target=" _blank ">NR_028323.1:n.2289C>T</a>, <a href=" /projects/sviewer/?id=NR_028323.1&search=NR_028323.1:n.2289C>A&v=1:100&content=5 " target=" _blank ">NR_028323.1:n.2289C>A</a>, <a href=" /projects/sviewer/?id=XM_006712130.2&search=XM_006712130.2:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_006712130.2:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_006712130.2&search=XM_006712130.2:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_006712130.2:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_006712130.1&search=XM_006712130.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_006712130.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_006712130.1&search=XM_006712130.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_006712130.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_024453207.2&search=XM_024453207.2:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_024453207.2:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_024453207.2&search=XM_024453207.2:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_024453207.2:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_024453207.1&search=XM_024453207.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_024453207.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_024453207.1&search=XM_024453207.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_024453207.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_024453206.2&search=XM_024453206.2:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_024453206.2:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_024453206.2&search=XM_024453206.2:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_024453206.2:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_024453206.1&search=XM_024453206.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_024453206.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_024453206.1&search=XM_024453206.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_024453206.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XR_002959356.2&search=XR_002959356.2:n.1898C>T&v=1:100&content=5 " target=" _blank ">XR_002959356.2:n.1898C>T</a>, <a href=" /projects/sviewer/?id=XR_002959356.2&search=XR_002959356.2:n.1898C>A&v=1:100&content=5 " target=" _blank ">XR_002959356.2:n.1898C>A</a>, <a href=" /projects/sviewer/?id=XR_002959356.1&search=XR_002959356.1:n.1972C>T&v=1:100&content=5 " target=" _blank ">XR_002959356.1:n.1972C>T</a>, <a href=" /projects/sviewer/?id=XR_002959356.1&search=XR_002959356.1:n.1972C>A&v=1:100&content=5 " target=" _blank ">XR_002959356.1:n.1972C>A</a>, <a href=" /projects/sviewer/?id=XR_001739023.2&search=XR_001739023.2:n.1829C>T&v=1:100&content=5 " target=" _blank ">XR_001739023.2:n.1829C>T</a>, <a href=" /projects/sviewer/?id=XR_001739023.2&search=XR_001739023.2:n.1829C>A&v=1:100&content=5 " target=" _blank ">XR_001739023.2:n.1829C>A</a>, <a href=" /projects/sviewer/?id=XR_001739023.1&search=XR_001739023.1:n.1668C>T&v=1:100&content=5 " target=" _blank ">XR_001739023.1:n.1668C>T</a>, <a href=" /projects/sviewer/?id=XR_001739023.1&search=XR_001739023.1:n.1668C>A&v=1:100&content=5 " target=" _blank ">XR_001739023.1:n.1668C>A</a>, <a href=" /projects/sviewer/?id=XR_002959358.2&search=XR_002959358.2:n.1898C>T&v=1:100&content=5 " target=" _blank ">XR_002959358.2:n.1898C>T</a>, <a href=" /projects/sviewer/?id=XR_002959358.2&search=XR_002959358.2:n.1898C>A&v=1:100&content=5 " target=" _blank ">XR_002959358.2:n.1898C>A</a>, <a href=" /projects/sviewer/?id=XR_002959358.1&search=XR_002959358.1:n.1907C>T&v=1:100&content=5 " target=" _blank ">XR_002959358.1:n.1907C>T</a>, <a href=" /projects/sviewer/?id=XR_002959358.1&search=XR_002959358.1:n.1907C>A&v=1:100&content=5 " target=" _blank ">XR_002959358.1:n.1907C>A</a>, <a href=" /projects/sviewer/?id=XR_001739022.2&search=XR_001739022.2:n.1696C>T&v=1:100&content=5 " target=" _blank ">XR_001739022.2:n.1696C>T</a>, <a href=" /projects/sviewer/?id=XR_001739022.2&search=XR_001739022.2:n.1696C>A&v=1:100&content=5 " target=" _blank ">XR_001739022.2:n.1696C>A</a>, <a href=" /projects/sviewer/?id=XR_001739022.1&search=XR_001739022.1:n.1738C>T&v=1:100&content=5 " target=" _blank ">XR_001739022.1:n.1738C>T</a>, <a href=" /projects/sviewer/?id=XR_001739022.1&search=XR_001739022.1:n.1738C>A&v=1:100&content=5 " target=" _blank ">XR_001739022.1:n.1738C>A</a>, <a href=" /projects/sviewer/?id=XR_002959357.2&search=XR_002959357.2:n.1898C>T&v=1:100&content=5 " target=" _blank ">XR_002959357.2:n.1898C>T</a>, <a href=" /projects/sviewer/?id=XR_002959357.2&search=XR_002959357.2:n.1898C>A&v=1:100&content=5 " target=" _blank ">XR_002959357.2:n.1898C>A</a>, <a href=" /projects/sviewer/?id=XR_002959357.1&search=XR_002959357.1:n.1907C>T&v=1:100&content=5 " target=" _blank ">XR_002959357.1:n.1907C>T</a>, <a href=" /projects/sviewer/?id=XR_002959357.1&search=XR_002959357.1:n.1907C>A&v=1:100&content=5 " target=" _blank ">XR_002959357.1:n.1907C>A</a>, <a href=" /projects/sviewer/?id=XM_047446243.1&search=XM_047446243.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_047446243.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_047446243.1&search=XM_047446243.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_047446243.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_047446246.1&search=XM_047446246.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_047446246.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_047446246.1&search=XM_047446246.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_047446246.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_047446245.1&search=XM_047446245.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_047446245.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_047446245.1&search=XM_047446245.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_047446245.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XM_047446244.1&search=XM_047446244.1:c.1442C>T&v=1:100&content=5 " target=" _blank ">XM_047446244.1:c.1442C>T</a>, <a href=" /projects/sviewer/?id=XM_047446244.1&search=XM_047446244.1:c.1442C>A&v=1:100&content=5 " target=" _blank ">XM_047446244.1:c.1442C>A</a>, <a href=" /projects/sviewer/?id=XR_007084322.1&search=XR_007084322.1:n.1808C>T&v=1:100&content=5 " target=" _blank ">XR_007084322.1:n.1808C>T</a>, <a href=" /projects/sviewer/?id=XR_007084322.1&search=XR_007084322.1:n.1808C>A&v=1:100&content=5 " target=" _blank ">XR_007084322.1:n.1808C>A</a>, <a href=" /projects/sviewer/?id=XM_047446247.1&search=XM_047446247.1:c.815C>T&v=1:100&content=5 " target=" _blank ">XM_047446247.1:c.815C>T</a>, <a href=" /projects/sviewer/?id=XM_047446247.1&search=XM_047446247.1:c.815C>A&v=1:100&content=5 " target=" _blank ">XM_047446247.1:c.815C>A</a>, <a href=" /projects/sviewer/?id=XM_047446248.1&search=XM_047446248.1:c.773C>T&v=1:100&content=5 " target=" _blank ">XM_047446248.1:c.773C>T</a>, <a href=" /projects/sviewer/?id=XM_047446248.1&search=XM_047446248.1:c.773C>A&v=1:100&content=5 " target=" _blank ">XM_047446248.1:c.773C>A</a>, <a href=" /projects/sviewer/?id=NP_066918.2&search=NP_066918.2:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">NP_066918.2:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=NP_066918.2&search=NP_066918.2:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">NP_066918.2:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_006712191.1&search=XP_006712191.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_006712191.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_006712191.1&search=XP_006712191.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_006712191.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_006712192.1&search=XP_006712192.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_006712192.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_006712192.1&search=XP_006712192.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_006712192.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_006712193.1&search=XP_006712193.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_006712193.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_006712193.1&search=XP_006712193.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_006712193.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_024308975.1&search=XP_024308975.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_024308975.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_024308975.1&search=XP_024308975.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_024308975.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_024308974.1&search=XP_024308974.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_024308974.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_024308974.1&search=XP_024308974.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_024308974.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_047302199.1&search=XP_047302199.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_047302199.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_047302199.1&search=XP_047302199.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_047302199.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_047302202.1&search=XP_047302202.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_047302202.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_047302202.1&search=XP_047302202.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_047302202.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_047302201.1&search=XP_047302201.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_047302201.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_047302201.1&search=XP_047302201.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_047302201.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_047302200.1&search=XP_047302200.1:p.Ser481Phe&v=1:100&content=5 " target=" _blank ">XP_047302200.1:p.Ser481Phe</a>, <a href=" /projects/sviewer/?id=XP_047302200.1&search=XP_047302200.1:p.Ser481Tyr&v=1:100&content=5 " target=" _blank ">XP_047302200.1:p.Ser481Tyr</a>, <a href=" /projects/sviewer/?id=XP_047302203.1&search=XP_047302203.1:p.Ser272Phe&v=1:100&content=5 " target=" _blank ">XP_047302203.1:p.Ser272Phe</a>, <a href=" /projects/sviewer/?id=XP_047302203.1&search=XP_047302203.1:p.Ser272Tyr&v=1:100&content=5 " target=" _blank ">XP_047302203.1:p.Ser272Tyr</a>, <a href=" /projects/sviewer/?id=XP_047302204.1&search=XP_047302204.1:p.Ser258Phe&v=1:100&content=5 " target=" _blank ">XP_047302204.1:p.Ser258Phe</a>, <a href=" /projects/sviewer/?id=XP_047302204.1&search=XP_047302204.1:p.Ser258Tyr&v=1:100&content=5 " target=" _blank ">XP_047302204.1:p.Ser258Tyr</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=1395"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1442" class="ui-helper-hidden-accessible">Select item 1442</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="18" type="checkbox" id="UidCheckBox1442" value="1442" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/snp/1442" ref="ordinalpos=18&ncbi_uid=1442&link_uid=1442"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1442">rs1442</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A,C,T</span><span class="for_snp_flanks" snp_info="rs1442:G/A/C/T:5:136047300:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>5:136047300
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(GRCh38)<br />5:135382989
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000005.10:136047299:G:A,NC_000005.10:136047299:G:C,NC_000005.10:136047299:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">TGFBI (<a href="/variation/view/?q=rs1442"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>synonymous_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">C=0.4373722/21810
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(<a id="alfa_link" href=" /snp/rs1442#frequency_tab ">ALFA</a>)<br />C=0.2665326/20942
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(PAGE_STUDY)<br />C=0.2818182/93
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(HapMap)<br />C=0.3/180
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(Vietnamese)<br />G=0.3157895/12
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(Siberian)<br />C=0.3168332/2029
|
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(1000Genomes_30X)<br />C=0.3176917/1591
|
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(1000Genomes)<br />C=0.3287037/71
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(Qatari)<br />C=0.3395197/622
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(Korea1K)<br />C=0.3419087/2472
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(Korea4K)<br />C=0.3434817/4321
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(GoESP)<br />C=0.3491178/92408
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(TOPMED)<br />C=0.3532423/1035
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(KOREAN)<br />C=0.3534167/27370
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(TOMMO)<br />C=0.3650596/54353
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(GnomAD_genomes)<br />G=0.3695652/119
|
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(SGDP_PRJ)<br />C=0.4269894/51512
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(ExAC)<br />C=0.4494382/240
|
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(MGP)<br />C=0.459773/644268
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(GnomAD_exomes)<br />C=0.4662946/2089
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(Estonian)<br />C=0.4667878/1799
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(ALSPAC)<br />C=0.4766667/286
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(NorthernSweden)<br />C=0.4768069/1768
|
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(TWINSUK)<br />C=0.4829659/482
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(GoNL)<br />G=0.4934211/150
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(FINRISK)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.136047300G>A&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.136047300G>A</a>, <a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.136047300G>C&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.136047300G>C</a>, <a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.136047300G>T&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.136047300G>T</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.135382989G>A&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.135382989G>A</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.135382989G>C&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.135382989G>C</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.135382989G>T&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.135382989G>T</a>, <a href=" /projects/sviewer/?id=NG_012646.1&search=NG_012646.1:g.23406G>A&v=1:100&content=5 " target=" _blank ">NG_012646.1:g.23406G>A</a>, <a href=" /projects/sviewer/?id=NG_012646.1&search=NG_012646.1:g.23406G>C&v=1:100&content=5 " target=" _blank ">NG_012646.1:g.23406G>C</a>, <a href=" /projects/sviewer/?id=NG_012646.1&search=NG_012646.1:g.23406G>T&v=1:100&content=5 " target=" _blank ">NG_012646.1:g.23406G>T</a>, <a href=" /projects/sviewer/?id=NM_000358.3&search=NM_000358.3:c.651G>A&v=1:100&content=5 " target=" _blank ">NM_000358.3:c.651G>A</a>, <a href=" /projects/sviewer/?id=NM_000358.3&search=NM_000358.3:c.651G>C&v=1:100&content=5 " target=" _blank ">NM_000358.3:c.651G>C</a>, <a href=" /projects/sviewer/?id=NM_000358.3&search=NM_000358.3:c.651G>T&v=1:100&content=5 " target=" _blank ">NM_000358.3:c.651G>T</a>, <a href=" /projects/sviewer/?id=NM_000358.2&search=NM_000358.2:c.651G>A&v=1:100&content=5 " target=" _blank ">NM_000358.2:c.651G>A</a>, <a href=" /projects/sviewer/?id=NM_000358.2&search=NM_000358.2:c.651G>C&v=1:100&content=5 " target=" _blank ">NM_000358.2:c.651G>C</a>, <a href=" /projects/sviewer/?id=NM_000358.2&search=NM_000358.2:c.651G>T&v=1:100&content=5 " target=" _blank ">NM_000358.2:c.651G>T</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=1442"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1478" class="ui-helper-hidden-accessible">Select item 1478</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="19" type="checkbox" id="UidCheckBox1478" value="1478" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/snp/1478" ref="ordinalpos=19&ncbi_uid=1478&link_uid=1478"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1478">rs1478</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>A,G</span><span class="for_snp_flanks" snp_info="rs1478:T/A/G:2:113217489:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>2:113217489
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(GRCh38)<br />2:113975066
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000002.12:113217488:T:A,NC_000002.12:113217488:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">PAX8 (<a href="/variation/view/?q=rs1478"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">G=0.204457/30128
|
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(<a id="alfa_link" href=" /snp/rs1478#frequency_tab ">ALFA</a>)<br />G=0.064112/4965
|
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(TOMMO)<br />G=0.078103/565
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(Korea4K)<br />G=0.081878/150
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(Korea1K)<br />G=0.087269/255
|
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(KOREAN)<br />G=0.111111/24
|
|
(Vietnamese)<br />G=0.143519/31
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|
(Qatari)<br />G=0.146067/78
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|
(MGP)<br />G=0.157244/178
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(Daghestan)<br />G=0.192008/740
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(ALSPAC)<br />G=0.19341/13736
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(GnomAD_exomes)<br />G=0.213592/792
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(TWINSUK)<br />G=0.226667/136
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(NorthernSweden)<br />G=0.232465/232
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(GoNL)<br />G=0.24381/1221
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(1000Genomes)<br />G=0.246721/1580
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(1000Genomes_30X)<br />G=0.25/10
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(GENOME_DK)<br />T=0.25/3
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(Siberian)<br />G=0.259598/1163
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(Estonian)<br />G=0.263492/498
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(HapMap)<br />G=0.269988/71463
|
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(TOPMED)<br />G=0.270181/40197
|
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(GnomAD_genomes)<br />T=0.409091/63
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(SGDP_PRJ)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000002.12&search=NC_000002.12:g.113217489T>A&v=1:100&content=5 " target=" _blank ">NC_000002.12:g.113217489T>A</a>, <a href=" /projects/sviewer/?id=NC_000002.12&search=NC_000002.12:g.113217489T>G&v=1:100&content=5 " target=" _blank ">NC_000002.12:g.113217489T>G</a>, <a href=" /projects/sviewer/?id=NC_000002.11&search=NC_000002.11:g.113975066T>A&v=1:100&content=5 " target=" _blank ">NC_000002.11:g.113975066T>A</a>, <a href=" /projects/sviewer/?id=NC_000002.11&search=NC_000002.11:g.113975066T>G&v=1:100&content=5 " target=" _blank ">NC_000002.11:g.113975066T>G</a>, <a href=" /projects/sviewer/?id=NG_012384.1&search=NG_012384.1:g.66433A>T&v=1:100&content=5 " target=" _blank ">NG_012384.1:g.66433A>T</a>, <a href=" /projects/sviewer/?id=NG_012384.1&search=NG_012384.1:g.66433A>C&v=1:100&content=5 " target=" _blank ">NG_012384.1:g.66433A>C</a>, <a href=" /projects/sviewer/?id=NM_003466.4&search=NM_003466.4:c.*1044A>T&v=1:100&content=5 " target=" _blank ">NM_003466.4:c.*1044A>T</a>, <a href=" /projects/sviewer/?id=NM_003466.4&search=NM_003466.4:c.*1044A>C&v=1:100&content=5 " target=" _blank ">NM_003466.4:c.*1044A>C</a>, <a href=" /projects/sviewer/?id=NM_003466.3&search=NM_003466.3:c.*1044A>T&v=1:100&content=5 " target=" _blank ">NM_003466.3:c.*1044A>T</a>, <a href=" /projects/sviewer/?id=NM_003466.3&search=NM_003466.3:c.*1044A>C&v=1:100&content=5 " target=" _blank ">NM_003466.3:c.*1044A>C</a>, <a href=" /projects/sviewer/?id=NM_013952.4&search=NM_013952.4:c.*1121A>T&v=1:100&content=5 " target=" _blank ">NM_013952.4:c.*1121A>T</a>, <a href=" /projects/sviewer/?id=NM_013952.4&search=NM_013952.4:c.*1121A>C&v=1:100&content=5 " target=" _blank ">NM_013952.4:c.*1121A>C</a>, <a href=" /projects/sviewer/?id=NM_013952.3&search=NM_013952.3:c.*1121A>T&v=1:100&content=5 " target=" _blank ">NM_013952.3:c.*1121A>T</a>, <a href=" /projects/sviewer/?id=NM_013952.3&search=NM_013952.3:c.*1121A>C&v=1:100&content=5 " target=" _blank ">NM_013952.3:c.*1121A>C</a>, <a href=" /projects/sviewer/?id=NM_013953.4&search=NM_013953.4:c.*1121A>T&v=1:100&content=5 " target=" _blank ">NM_013953.4:c.*1121A>T</a>, <a href=" /projects/sviewer/?id=NM_013953.4&search=NM_013953.4:c.*1121A>C&v=1:100&content=5 " target=" _blank ">NM_013953.4:c.*1121A>C</a>, <a href=" /projects/sviewer/?id=NM_013953.3&search=NM_013953.3:c.*1121A>T&v=1:100&content=5 " target=" _blank ">NM_013953.3:c.*1121A>T</a>, <a href=" /projects/sviewer/?id=NM_013953.3&search=NM_013953.3:c.*1121A>C&v=1:100&content=5 " target=" _blank ">NM_013953.3:c.*1121A>C</a>, <a href=" /projects/sviewer/?id=NM_013992.4&search=NM_013992.4:c.*1121A>T&v=1:100&content=5 " target=" _blank ">NM_013992.4:c.*1121A>T</a>, <a href=" /projects/sviewer/?id=NM_013992.4&search=NM_013992.4:c.*1121A>C&v=1:100&content=5 " target=" _blank ">NM_013992.4:c.*1121A>C</a>, <a href=" /projects/sviewer/?id=NM_013992.3&search=NM_013992.3:c.*1121A>T&v=1:100&content=5 " target=" _blank ">NM_013992.3:c.*1121A>T</a>, <a href=" /projects/sviewer/?id=NM_013992.3&search=NM_013992.3:c.*1121A>C&v=1:100&content=5 " target=" _blank ">NM_013992.3:c.*1121A>C</a>, <a href=" /projects/sviewer/?id=NM_013951.3&search=NM_013951.3:c.*1044A>T&v=1:100&content=5 " target=" _blank ">NM_013951.3:c.*1044A>T</a>, <a href=" /projects/sviewer/?id=NM_013951.3&search=NM_013951.3:c.*1044A>C&v=1:100&content=5 " target=" _blank ">NM_013951.3:c.*1044A>C</a>, <a href=" /projects/sviewer/?id=NM_013951.2&search=NM_013951.2:c.*1044A>T&v=1:100&content=5 " target=" _blank ">NM_013951.2:c.*1044A>T</a>, <a href=" /projects/sviewer/?id=NM_013951.2&search=NM_013951.2:c.*1044A>C&v=1:100&content=5 " target=" _blank ">NM_013951.2:c.*1044A>C</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=1478"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1479" class="ui-helper-hidden-accessible">Select item 1479</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="20" type="checkbox" id="UidCheckBox1479" value="1479" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/snp/1479" ref="ordinalpos=20&ncbi_uid=1479&link_uid=1479"> </a></p><div class="supp"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" style="float:left"><a href="/snp/rs1479">rs1479</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>G</span><span class="for_snp_flanks" snp_info="rs1479:T/G:2:113217527:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>2:113217527
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(GRCh38)<br />2:113975104
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000002.12:113217526:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">PAX8 (<a href="/variation/view/?q=rs1479"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>3_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">G=0.231326/10858
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(<a id="alfa_link" href=" /snp/rs1479#frequency_tab ">ALFA</a>)<br />G=0.043529/3371
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(TOMMO)<br />G=0.066906/484
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(Korea4K)<br />G=0.070415/129
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(Korea1K)<br />G=0.074949/219
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(KOREAN)<br />G=0.108614/58
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(MGP)<br />G=0.111111/24
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(Vietnamese)<br />G=0.148148/32
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(Qatari)<br />G=0.188116/725
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(ALSPAC)<br />G=0.189724/13604
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(GnomAD_exomes)<br />G=0.206041/764
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(TWINSUK)<br />G=0.213333/128
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(NorthernSweden)<br />G=0.231463/231
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(GoNL)<br />G=0.249201/1248
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(1000Genomes)<br />G=0.25/10
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(GENOME_DK)<br />G=0.253279/1622
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(1000Genomes_30X)<br />G=0.258705/1159
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(Estonian)<br />G=0.277831/41454
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(GnomAD_genomes)<br />G=0.279893/74085
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(TOPMED)<br />T=0.3125/5
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(Siberian)<br />T=0.39375/63
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(SGDP_PRJ)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000002.12&search=NC_000002.12:g.113217527T>G&v=1:100&content=5 " target=" _blank ">NC_000002.12:g.113217527T>G</a>, <a href=" /projects/sviewer/?id=NC_000002.11&search=NC_000002.11:g.113975104T>G&v=1:100&content=5 " target=" _blank ">NC_000002.11:g.113975104T>G</a>, <a href=" /projects/sviewer/?id=NG_012384.1&search=NG_012384.1:g.66395A>C&v=1:100&content=5 " target=" _blank ">NG_012384.1:g.66395A>C</a>, <a href=" /projects/sviewer/?id=NM_003466.4&search=NM_003466.4:c.*1006A>C&v=1:100&content=5 " target=" _blank ">NM_003466.4:c.*1006A>C</a>, <a href=" /projects/sviewer/?id=NM_003466.3&search=NM_003466.3:c.*1006A>C&v=1:100&content=5 " target=" _blank ">NM_003466.3:c.*1006A>C</a>, <a href=" /projects/sviewer/?id=NM_013952.4&search=NM_013952.4:c.*1083A>C&v=1:100&content=5 " target=" _blank ">NM_013952.4:c.*1083A>C</a>, <a href=" /projects/sviewer/?id=NM_013952.3&search=NM_013952.3:c.*1083A>C&v=1:100&content=5 " target=" _blank ">NM_013952.3:c.*1083A>C</a>, <a href=" /projects/sviewer/?id=NM_013953.4&search=NM_013953.4:c.*1083A>C&v=1:100&content=5 " target=" _blank ">NM_013953.4:c.*1083A>C</a>, <a href=" /projects/sviewer/?id=NM_013953.3&search=NM_013953.3:c.*1083A>C&v=1:100&content=5 " target=" _blank ">NM_013953.3:c.*1083A>C</a>, <a href=" /projects/sviewer/?id=NM_013992.4&search=NM_013992.4:c.*1083A>C&v=1:100&content=5 " target=" _blank ">NM_013992.4:c.*1083A>C</a>, <a href=" /projects/sviewer/?id=NM_013992.3&search=NM_013992.3:c.*1083A>C&v=1:100&content=5 " target=" _blank ">NM_013992.3:c.*1083A>C</a>, <a href=" /projects/sviewer/?id=NM_013951.3&search=NM_013951.3:c.*1006A>C&v=1:100&content=5 " target=" _blank ">NM_013951.3:c.*1006A>C</a>, <a href=" /projects/sviewer/?id=NM_013951.2&search=NM_013951.2:c.*1006A>C&v=1:100&content=5 " target=" _blank ">NM_013951.2:c.*1006A>C</a></span></div></dd>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="RelatedDataLinks" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.Shutter"></a>
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</div>
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<div class="portlet_content">
|
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<ul class="related">
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<li>
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<label for="rdDatabase">Database: </label>
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<select name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.rdDatabase" sid="1" id="rdDatabase">
|
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<option value="rddbto">Select</option>
|
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<option value="bioproject">BioProject</option>
|
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<option value="biosample">BioSample</option>
|
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<option value="clinvar">ClinVar</option>
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<option value="gap">dbGaP</option>
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<option value="dbvar">dbVar</option>
|
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<option value="gene">Gene</option>
|
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<option value="nuccore">Nucleotide</option>
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<option value="pmc">PMC</option>
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<option value="protein">Protein</option>
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<option value="snp">SNP</option>
|
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<option value="structure">Structure</option>
|
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<option value="taxonomy">Taxonomy</option>
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</select>
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</li>
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<li>
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<div id="rdOption" style="display: none;">
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<label for="rdLinkOption">Option: </label>
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<select name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.rdLinkOption" sid="1" id="rdLinkOption"></select>
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</div>
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</li>
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</ul>
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<p id="rdDescr"></p>
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<button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.rdFind" sid="1" id="rdFind" disabled="disabled" class="jig-ncbibutton">Find items</button>
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<input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.DbName" sid="1" type="hidden" id="DbName" value="snp" />
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<input type="hidden" id="rdqk" value="5350" />
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<div class="portlet">
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<div class="portlet_title">
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Discovery_SearchDetails" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.Shutter"></a>
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<textarea name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="snp">"TSC-CSHL"[Handle]</textarea>
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<button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.SearchDetailsQuery" sid="1" class="jig-ncbibutton">Search</button>
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<a class="seemore" href="/snp/details?querykey=5350" ref="log$=details">
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See more...
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Clear
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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Turn On
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<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5e85c84f3725e597c3ed3">"TSC-CSHL"[Handle] <span class="number">(3486152)</span></a>
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<div class="tertiary">SNP</div>
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</li>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d5e85184f3725e597c2437">LPL lipoprotein lipase [Homo sapiens]</a>
|
|
<div class="ralinkpop offscreen_noflow">LPL lipoprotein lipase [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:4023</div></div>
|
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<div class="tertiary">Gene</div>
|
|
</li>
|
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<li class="ra_rcd ralinkpopper two_line">
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5e84e67c23b31e000cb19">human STS WI-2300, sequence tagged site</a>
|
|
<div class="ralinkpop offscreen_noflow">human STS WI-2300, sequence tagged site<div class="brieflinkpopdesc">gi|719352|gnl|dbSTS|7880|gb|G02394. 394</div></div>
|
|
<div class="tertiary">Nucleotide</div>
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|
</li>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d5e84d2f30673f7b44e9ab">human STS WI-1245, sequence tagged site</a>
|
|
<div class="ralinkpop offscreen_noflow">human STS WI-1245, sequence tagged site<div class="brieflinkpopdesc">gi|719338|gnl|dbSTS|7866|gb|G02380. 380</div></div>
|
|
<div class="tertiary">Nucleotide</div>
|
|
</li>
|
|
<li class="ra_rcd ralinkpopper two_line">
|
|
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d5e84c2f30673f7b44e634">human STS WI-611, sequence tagged site</a>
|
|
<div class="ralinkpop offscreen_noflow">human STS WI-611, sequence tagged site<div class="brieflinkpopdesc">gi|719326|gnl|dbSTS|7854|gb|G02368. 368</div></div>
|
|
<div class="tertiary">Nucleotide</div>
|
|
</li>
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</ul>
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<p class="HTOn">Your browsing activity is empty.</p>
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<p class="HTOff">Activity recording is turned off.</p>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
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</a></li>
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<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
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<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
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<div class="col-lg-3 col-12">
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<p class="address_footer text-white">National Library of Medicine<br />
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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</div>
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<div class="col-lg-3 col-12 centered-lg">
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<div class="col-lg-3 col-12 centered-lg">
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<nav class="bottom-links">
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<li>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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</li>
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<li>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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