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1120 lines
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238 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="refseq">RefSeq</option><option value="books">Books</option><option value="protein" class="last">Protein</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="7[CHR]" 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=97" 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:'7%5BCHR%5D',qk:'97',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 62027723</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="62027723" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
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- - - - - - - - begin Results - - - - - -
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--><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox662" class="ui-helper-hidden-accessible">Select item 662</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="1" type="checkbox" id="UidCheckBox662" value="662" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/snp/662" ref="ordinalpos=1&ncbi_uid=662&link_uid=662"> </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/rs662">rs662</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="rs662:T/A/C/G:7:95308134: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><span class="highlight" style="background-color:">7</span>:95308134
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:94937446
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:95308133:T:A,NC_000007.14:95308133:T:C,NC_000007.14:95308133:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">PON1 (<a href="/variation/view/?q=rs662"><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,risk-factor,association
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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=0.315298/111601
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(<a id="alfa_link" href=" /snp/rs662#frequency_tab ">ALFA</a>)<br />G=0./0
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(KOREAN)<br />C=0.214286/6
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(PRJEB36033)<br />C=0.247991/1111
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(Estonian)<br />C=0.253333/152
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(NorthernSweden)<br />T=0.2675/107
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(SGDP_PRJ)<br />C=0.276316/84
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(FINRISK)<br />C=0.278857/1034
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(TWINSUK)<br />C=0.283567/283
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(GoNL)<br />C=0.290348/1119
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(ALSPAC)<br />T=0.294788/181
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(Vietnamese)<br />C=0.3/12
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(GENOME_DK)<br />C=0.301431/337
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(Daghestan)<br />C=0.307116/164
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(MGP)<br />T=0.333888/5595
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(TOMMO)<br />T=0.347826/16
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(Siberian)<br />C=0.377047/45735
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(ExAC)<br />C=0.378433/95101
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(GnomAD_exomes)<br />C=0.37963/82
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(Qatari)<br />C=0.422151/59042
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(GnomAD)<br />T=0.42789/807
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(HapMap)<br />T=0.428751/33741
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(PAGE_STUDY)<br />C=0.445619/117951
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(TOPMED)<br />T=0.457214/2290
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(1000Genomes)<br />C=0.491363/1024
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(HGDP_Stanford)<br />T=0.491525/174
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(PharmGKB)<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.95308134T>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.95308134T>A</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.95308134T>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.95308134T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.95308134T>G&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.95308134T>G</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94937446T>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94937446T>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94937446T>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94937446T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94937446T>G&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94937446T>G</a>, <a href=" /projects/sviewer/?id=NG_008779.2&search=NG_008779.2:g.21573A>T&v=1:100&content=5 " target=" _blank ">NG_008779.2:g.21573A>T</a>, <a href=" /projects/sviewer/?id=NG_008779.2&search=NG_008779.2:g.21573A>G&v=1:100&content=5 " target=" _blank ">NG_008779.2:g.21573A>G</a>, <a href=" /projects/sviewer/?id=NG_008779.2&search=NG_008779.2:g.21573A>C&v=1:100&content=5 " target=" _blank ">NG_008779.2:g.21573A>C</a>, <a href=" /projects/sviewer/?id=NM_000446.7&search=NM_000446.7:c.575A>T&v=1:100&content=5 " target=" _blank ">NM_000446.<span class="highlight" style="background-color:">7</span>:c.575A>T</a>, <a href=" /projects/sviewer/?id=NM_000446.7&search=NM_000446.7:c.575A>G&v=1:100&content=5 " target=" _blank ">NM_000446.<span class="highlight" style="background-color:">7</span>:c.575A>G</a>, <a href=" /projects/sviewer/?id=NM_000446.7&search=NM_000446.7:c.575A>C&v=1:100&content=5 " target=" _blank ">NM_000446.<span class="highlight" style="background-color:">7</span>:c.575A>C</a>, <a href=" /projects/sviewer/?id=NM_000446.6&search=NM_000446.6:c.575A>T&v=1:100&content=5 " target=" _blank ">NM_000446.6:c.575A>T</a>, <a href=" /projects/sviewer/?id=NM_000446.6&search=NM_000446.6:c.575A>G&v=1:100&content=5 " target=" _blank ">NM_000446.6:c.575A>G</a>, <a href=" /projects/sviewer/?id=NM_000446.6&search=NM_000446.6:c.575A>C&v=1:100&content=5 " target=" _blank ">NM_000446.6:c.575A>C</a>, <a href=" /projects/sviewer/?id=NM_000446.5&search=NM_000446.5:c.575A>T&v=1:100&content=5 " target=" _blank ">NM_000446.5:c.575A>T</a>, <a href=" /projects/sviewer/?id=NM_000446.5&search=NM_000446.5:c.575A>G&v=1:100&content=5 " target=" _blank ">NM_000446.5:c.575A>G</a>, <a href=" /projects/sviewer/?id=NM_000446.5&search=NM_000446.5:c.575A>C&v=1:100&content=5 " target=" _blank ">NM_000446.5:c.575A>C</a>, <a href=" /projects/sviewer/?id=NP_000437.3&search=NP_000437.3:p.Gln192Leu&v=1:100&content=5 " target=" _blank ">NP_000437.3:p.Gln192Leu</a>, <a href=" /projects/sviewer/?id=NP_000437.3&search=NP_000437.3:p.Gln192Arg&v=1:100&content=5 " target=" _blank ">NP_000437.3:p.Gln192Arg</a>, <a href=" /projects/sviewer/?id=NP_000437.3&search=NP_000437.3:p.Gln192Pro&v=1:100&content=5 " target=" _blank ">NP_000437.3:p.Gln192Pro</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=662"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox663" class="ui-helper-hidden-accessible">Select item 663</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="2" type="checkbox" id="UidCheckBox663" value="663" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/snp/663" ref="ordinalpos=2&ncbi_uid=663&link_uid=663"> </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/rs663">rs663</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="rs663:C/A/T:7:94429328: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><span class="highlight" style="background-color:">7</span>:94429328
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:94058640
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:94429327:C:A,NC_000007.14:94429327:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">COL1A2 (<a href="/variation/view/?q=rs663"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,synonymous_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-benign,uncertain-significance
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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./0
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(<a id="alfa_link" href=" /snp/rs663#frequency_tab ">ALFA</a>)<br />A=0./0
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(HapMap)<br />A=0.000008/1
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(ExAC)<br />A=0.000016/4
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(GnomAD_exomes)<br />A=0.000156/1
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(1000Genomes)<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.94429328C>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94429328C>A</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.94429328C>T&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94429328C>T</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94058640C>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94058640C>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94058640C>T&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94058640C>T</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.39768C>A&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.39768C>A</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.39768C>T&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.39768C>T</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.3852C>A&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.3852C>A</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.3852C>T&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.3852C>T</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.3852C>A&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.3852C>A</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.3852C>T&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.3852C>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="UidCheckBox1107" class="ui-helper-hidden-accessible">Select item 1107</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="3" type="checkbox" id="UidCheckBox1107" value="1107" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/snp/1107" ref="ordinalpos=3&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><span class="highlight" style="background-color:">7</span>:72948424
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>: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>genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,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
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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=0.460944/22235
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(<a id="alfa_link" href=" /snp/rs1107#frequency_tab ">ALFA</a>)<br />C=0.022472/12
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(MGP)<br />T=0.331754/140
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(SGDP_PRJ)<br />T=0.419269/2100
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(1000Genomes)<br />T=0.429582/113706
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(TOPMED)<br />T=0.430133/59927
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(GnomAD)<br />C=0.459061/841
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(Korea1K)<br />T=0.459772/55625
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(ExAC)<br />T=0.462097/114614
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(GnomAD_exomes)<br />C=0.46988/7873
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(TOMMO)<br />C=0.476792/1397
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(KOREAN)<br />C=0.481481/104
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(Qatari)<br />T=0.481667/289
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(NorthernSweden)<br />T=0.482445/6266
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(GoESP)<br />C=0.485972/485
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(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="UidCheckBox1621" class="ui-helper-hidden-accessible">Select item 1621</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="4" type="checkbox" id="UidCheckBox1621" value="1621" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/snp/1621" ref="ordinalpos=4&ncbi_uid=1621&link_uid=1621"> </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/rs1621">rs1621</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</span><span class="for_snp_flanks" snp_info="rs1621:G/A/C:7:116797552: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><span class="highlight" style="background-color:">7</span>:116797552
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:116437606
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:116797551:G:A,NC_000007.14:116797551:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MET (<a href="/variation/view/?q=rs1621"><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">G=0.339337/49647
|
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(<a id="alfa_link" href=" /snp/rs1621#frequency_tab ">ALFA</a>)<br />G=0.074074/16
|
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(Vietnamese)<br />G=0.121502/356
|
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(KOREAN)<br />G=0.127848/101
|
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(PRJEB37584)<br />G=0.131892/2210
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(TOMMO)<br />G=0.188976/96
|
|
(SGDP_PRJ)<br />G=0.25/12
|
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(Siberian)<br />G=0.29544/1480
|
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(1000Genomes)<br />G=0.3/12
|
|
(GENOME_DK)<br />G=0.311441/588
|
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(HapMap)<br />G=0.32767/1215
|
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(TWINSUK)<br />G=0.32823/1265
|
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(ALSPAC)<br />G=0.335938/1505
|
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(Estonian)<br />G=0.339679/339
|
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(GoNL)<br />G=0.360391/95392
|
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(TOPMED)<br />G=0.365741/79
|
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(Qatari)<br />G=0.366846/51332
|
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(GnomAD)<br />G=0.38764/207
|
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(MGP)<br />G=0.405/243
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(NorthernSweden)<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.116797552G>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.116797552G>A</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.116797552G>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.116797552G>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.116437606G>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.116437606G>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.116437606G>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.116437606G>C</a>, <a href=" /projects/sviewer/?id=NG_008996.1&search=NG_008996.1:g.130148G>A&v=1:100&content=5 " target=" _blank ">NG_008996.1:g.130148G>A</a>, <a href=" /projects/sviewer/?id=NG_008996.1&search=NG_008996.1:g.130148G>C&v=1:100&content=5 " target=" _blank ">NG_008996.1:g.130148G>C</a>, <a href=" /projects/sviewer/?id=NM_000245.4&search=NM_000245.4:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_000245.4:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_000245.4&search=NM_000245.4:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_000245.4:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=NM_000245.3&search=NM_000245.3:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_000245.3:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_000245.3&search=NM_000245.3:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_000245.3:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=NM_000245.2&search=NM_000245.2:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_000245.2:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_000245.2&search=NM_000245.2:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_000245.2:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=NM_001127500.3&search=NM_001127500.3:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_001127500.3:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_001127500.3&search=NM_001127500.3:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_001127500.3:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=NM_001127500.2&search=NM_001127500.2:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_001127500.2:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_001127500.2&search=NM_001127500.2:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_001127500.2:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=NM_001127500.1&search=NM_001127500.1:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_001127500.1:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_001127500.1&search=NM_001127500.1:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_001127500.1:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=NM_001324402.2&search=NM_001324402.2:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_001324402.2:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_001324402.2&search=NM_001324402.2:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_001324402.2:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=NM_001324402.1&search=NM_001324402.1:c.*1428G>A&v=1:100&content=5 " target=" _blank ">NM_001324402.1:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=NM_001324402.1&search=NM_001324402.1:c.*1428G>C&v=1:100&content=5 " target=" _blank ">NM_001324402.1:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=XM_011516223.2&search=XM_011516223.2:c.*1428G>A&v=1:100&content=5 " target=" _blank ">XM_011516223.2:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=XM_011516223.2&search=XM_011516223.2:c.*1428G>C&v=1:100&content=5 " target=" _blank ">XM_011516223.2:c.*1428G>C</a>, <a href=" /projects/sviewer/?id=XM_011516223.1&search=XM_011516223.1:c.*1428G>A&v=1:100&content=5 " target=" _blank ">XM_011516223.1:c.*1428G>A</a>, <a href=" /projects/sviewer/?id=XM_011516223.1&search=XM_011516223.1:c.*1428G>C&v=1:100&content=5 " target=" _blank ">XM_011516223.1:c.*1428G>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=1621"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2472" class="ui-helper-hidden-accessible">Select item 2472</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="5" type="checkbox" id="UidCheckBox2472" value="2472" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/snp/2472" ref="ordinalpos=5&ncbi_uid=2472&link_uid=2472"> </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/rs2472">rs2472</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="rs2472:T/C:7:94422138: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><span class="highlight" style="background-color:">7</span>:94422138
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:94051450
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:94422137:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">COL1A2 (<a href="/variation/view/?q=rs2472"><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=0.053507/1799
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(<a id="alfa_link" href=" /snp/rs2472#frequency_tab ">ALFA</a>)<br />C=0.00463/1
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(Qatari)<br />C=0.019366/22
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(Daghestan)<br />C=0.022798/114
|
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(1000Genomes)<br />C=0.04194/11101
|
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(TOPMED)<br />C=0.044451/6225
|
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(GnomAD)<br />C=0.05/224
|
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(Estonian)<br />C=0.051515/17
|
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(HapMap)<br />C=0.059601/221
|
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(TWINSUK)<br />C=0.06876/265
|
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(ALSPAC)<br />C=0.071667/43
|
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(NorthernSweden)<br />C=0.079158/79
|
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(GoNL)<br />C=0.1/4
|
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(GENOME_DK)<br />T=0.5/1
|
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(Siberian)<br />T=0.5/3
|
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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_000007.14&search=NC_000007.14:g.94422138T>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94422138T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94051450T>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94051450T>C</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.32578T>C&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.32578T>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=2472"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2586" class="ui-helper-hidden-accessible">Select item 2586</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="6" type="checkbox" id="UidCheckBox2586" value="2586" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/snp/2586" ref="ordinalpos=6&ncbi_uid=2586&link_uid=2586"> </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/rs2586">rs2586</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</span><span class="for_snp_flanks" snp_info="rs2586:A/C:7:30979391: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><span class="highlight" style="background-color:">7</span>:30979391
|
|
(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:31019006
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:30979390:A:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">GHRHR (<a href="/variation/view/?q=rs2586"><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>likely-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=0.034199/748
|
|
(<a id="alfa_link" href=" /snp/rs2586#frequency_tab ">ALFA</a>)<br />C=0.015179/68
|
|
(Estonian)<br />C=0.018333/11
|
|
(NorthernSweden)<br />C=0.022833/88
|
|
(ALSPAC)<br />C=0.029126/108
|
|
(TWINSUK)<br />C=0.03507/35
|
|
(GoNL)<br />C=0.040299/5653
|
|
(GnomAD)<br />C=0.040814/10803
|
|
(TOPMED)<br />C=0.042942/215
|
|
(1000Genomes)<br />C=0.12037/26
|
|
(Qatari)<br />A=0.46/23
|
|
(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_000007.14&search=NC_000007.14:g.30979391A>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.30979391A>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.31019006A>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.31019006A>C</a>, <a href=" /projects/sviewer/?id=NG_021416.1&search=NG_021416.1:g.20371A>C&v=1:100&content=5 " target=" _blank ">NG_021416.1:g.20371A>C</a>, <a href=" /projects/sviewer/?id=NM_000823.4&search=NM_000823.4:c.*147A>C&v=1:100&content=5 " target=" _blank ">NM_000823.4:c.*147A>C</a>, <a href=" /projects/sviewer/?id=NM_000823.3&search=NM_000823.3:c.*147A>C&v=1:100&content=5 " target=" _blank ">NM_000823.3:c.*147A>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"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2741" class="ui-helper-hidden-accessible">Select item 2741</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="7" type="checkbox" id="UidCheckBox2741" value="2741" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/snp/2741" ref="ordinalpos=7&ncbi_uid=2741&link_uid=2741"> </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/rs2741">rs2741</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="rs2741:T/G:7:30975950: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><span class="highlight" style="background-color:">7</span>:30975950
|
|
(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:31015565
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:30975949:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">GHRHR (<a href="/variation/view/?q=rs2741"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>intron_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">G=0.107955/19936
|
|
(<a id="alfa_link" href=" /snp/rs2741#frequency_tab ">ALFA</a>)<br />G=0.07515/75
|
|
(GoNL)<br />G=0.08/48
|
|
(NorthernSweden)<br />G=0.087946/394
|
|
(Estonian)<br />G=0.093023/8
|
|
(PRJEB36033)<br />G=0.096818/359
|
|
(TWINSUK)<br />G=0.097085/706
|
|
(GoESP)<br />G=0.102305/14337
|
|
(GnomAD)<br />G=0.110764/29318
|
|
(TOPMED)<br />G=0.113389/437
|
|
(ALSPAC)<br />G=0.120891/228
|
|
(HapMap)<br />G=0.125/5
|
|
(GENOME_DK)<br />G=0.129138/647
|
|
(1000Genomes)<br />G=0.132959/71
|
|
(MGP)<br />G=0.143519/31
|
|
(Qatari)<br />G=0.14486/31
|
|
(Vietnamese)<br />G=0.150192/313
|
|
(HGDP_Stanford)<br />G=0.152212/172
|
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(Daghestan)<br />G=0.229803/421
|
|
(Korea1K)<br />G=0.23473/3934
|
|
(TOMMO)<br />G=0.243669/712
|
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(KOREAN)<br />T=0.450704/64
|
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(SGDP_PRJ)<br />T=0.5/4
|
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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_000007.14&search=NC_000007.14:g.30975950T>G&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.30975950T>G</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.31015565T>G&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.31015565T>G</a>, <a href=" /projects/sviewer/?id=NG_021416.1&search=NG_021416.1:g.16930T>G&v=1:100&content=5 " target=" _blank ">NG_021416.1:g.16930T>G</a>, <a href=" /projects/sviewer/?id=NM_001009824.1&search=NM_001009824.1:c.*42T>G&v=1:100&content=5 " target=" _blank ">NM_001009824.1:c.*42T>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"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=2741"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2877" class="ui-helper-hidden-accessible">Select item 2877</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="8" type="checkbox" id="UidCheckBox2877" value="2877" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/snp/2877" ref="ordinalpos=8&ncbi_uid=2877&link_uid=2877"> </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/rs2877">rs2877</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="rs2877:C/A/G/T:7:83135109: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><span class="highlight" style="background-color:">7</span>:83135109
|
|
(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:82764425
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:83135108:C:A,NC_000007.14:83135108:C:G,NC_000007.14:83135108:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">PCLO (<a href="/variation/view/?q=rs2877"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,missense_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">C=0.314033/32991
|
|
(<a id="alfa_link" href=" /snp/rs2877#frequency_tab ">ALFA</a>)<br />T=0./0
|
|
(KOREAN)<br />C=0.000283/5
|
|
(TOMMO)<br />C=0.001092/2
|
|
(Korea1K)<br />C=0.009772/6
|
|
(Vietnamese)<br />C=0.020202/16
|
|
(PRJEB37584)<br />C=0.110487/59
|
|
(SGDP_PRJ)<br />C=0.111111/6
|
|
(Siberian)<br />C=0.198626/995
|
|
(1000Genomes)<br />C=0.226969/17852
|
|
(PAGE_STUDY)<br />C=0.244311/60894
|
|
(GnomAD_exomes)<br />C=0.245359/29631
|
|
(ExAC)<br />C=0.257669/84
|
|
(HapMap)<br />C=0.273148/59
|
|
(Qatari)<br />C=0.275/11
|
|
(GENOME_DK)<br />C=0.281756/74578
|
|
(TOPMED)<br />C=0.290581/290
|
|
(GoNL)<br />C=0.293405/41052
|
|
(GnomAD)<br />C=0.296667/178
|
|
(NorthernSweden)<br />C=0.300431/1114
|
|
(TWINSUK)<br />C=0.310484/3696
|
|
(GoESP)<br />C=0.312662/1205
|
|
(ALSPAC)<br />C=0.315848/1415
|
|
(Estonian)<br />C=0.340824/182
|
|
(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_000007.14&search=NC_000007.14:g.83135109C>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.83135109C>A</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.83135109C>G&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.83135109C>G</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.83135109C>T&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.83135109C>T</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.82764425C>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.82764425C>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.82764425C>G&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.82764425C>G</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.82764425C>T&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.82764425C>T</a>, <a href=" /projects/sviewer/?id=NG_047145.1&search=NG_047145.1:g.32773G>T&v=1:100&content=5 " target=" _blank ">NG_047145.1:g.32773G>T</a>, <a href=" /projects/sviewer/?id=NG_047145.1&search=NG_047145.1:g.32773G>C&v=1:100&content=5 " target=" _blank ">NG_047145.1:g.32773G>C</a>, <a href=" /projects/sviewer/?id=NG_047145.1&search=NG_047145.1:g.32773G>A&v=1:100&content=5 " target=" _blank ">NG_047145.1:g.32773G>A</a>, <a href=" /projects/sviewer/?id=NM_033026.6&search=NM_033026.6:c.2441G>T&v=1:100&content=5 " target=" _blank ">NM_033026.6:c.2441G>T</a>, <a href=" /projects/sviewer/?id=NM_033026.6&search=NM_033026.6:c.2441G>C&v=1:100&content=5 " target=" _blank ">NM_033026.6:c.2441G>C</a>, <a href=" /projects/sviewer/?id=NM_033026.6&search=NM_033026.6:c.2441G>A&v=1:100&content=5 " target=" _blank ">NM_033026.6:c.2441G>A</a>, <a href=" /projects/sviewer/?id=NM_033026.5&search=NM_033026.5:c.2441G>T&v=1:100&content=5 " target=" _blank ">NM_033026.5:c.2441G>T</a>, <a href=" /projects/sviewer/?id=NM_033026.5&search=NM_033026.5:c.2441G>C&v=1:100&content=5 " target=" _blank ">NM_033026.5:c.2441G>C</a>, <a href=" /projects/sviewer/?id=NM_033026.5&search=NM_033026.5:c.2441G>A&v=1:100&content=5 " target=" _blank ">NM_033026.5:c.2441G>A</a>, <a href=" /projects/sviewer/?id=NM_014510.3&search=NM_014510.3:c.2441G>T&v=1:100&content=5 " target=" _blank ">NM_014510.3:c.2441G>T</a>, <a href=" /projects/sviewer/?id=NM_014510.3&search=NM_014510.3:c.2441G>C&v=1:100&content=5 " target=" _blank ">NM_014510.3:c.2441G>C</a>, <a href=" /projects/sviewer/?id=NM_014510.3&search=NM_014510.3:c.2441G>A&v=1:100&content=5 " target=" _blank ">NM_014510.3:c.2441G>A</a>, <a href=" /projects/sviewer/?id=NM_014510.2&search=NM_014510.2:c.2441G>T&v=1:100&content=5 " target=" _blank ">NM_014510.2:c.2441G>T</a>, <a href=" /projects/sviewer/?id=NM_014510.2&search=NM_014510.2:c.2441G>C&v=1:100&content=5 " target=" _blank ">NM_014510.2:c.2441G>C</a>, <a href=" /projects/sviewer/?id=NM_014510.2&search=NM_014510.2:c.2441G>A&v=1:100&content=5 " target=" _blank ">NM_014510.2:c.2441G>A</a>, <a href=" /projects/sviewer/?id=XM_017012006.3&search=XM_017012006.3:c.2441G>T&v=1:100&content=5 " target=" _blank ">XM_017012006.3:c.2441G>T</a>, <a href=" /projects/sviewer/?id=XM_017012006.3&search=XM_017012006.3:c.2441G>C&v=1:100&content=5 " target=" _blank ">XM_017012006.3:c.2441G>C</a>, <a href=" /projects/sviewer/?id=XM_017012006.3&search=XM_017012006.3:c.2441G>A&v=1:100&content=5 " target=" _blank ">XM_017012006.3:c.2441G>A</a>, <a href=" /projects/sviewer/?id=XM_017012006.2&search=XM_017012006.2:c.2441G>T&v=1:100&content=5 " target=" _blank ">XM_017012006.2:c.2441G>T</a>, <a href=" /projects/sviewer/?id=XM_017012006.2&search=XM_017012006.2:c.2441G>C&v=1:100&content=5 " target=" _blank ">XM_017012006.2:c.2441G>C</a>, <a href=" /projects/sviewer/?id=XM_017012006.2&search=XM_017012006.2:c.2441G>A&v=1:100&content=5 " target=" _blank ">XM_017012006.2:c.2441G>A</a>, <a href=" /projects/sviewer/?id=XM_017012006.1&search=XM_017012006.1:c.2441G>T&v=1:100&content=5 " target=" _blank ">XM_017012006.1:c.2441G>T</a>, <a href=" /projects/sviewer/?id=XM_017012006.1&search=XM_017012006.1:c.2441G>C&v=1:100&content=5 " target=" _blank ">XM_017012006.1:c.2441G>C</a>, <a href=" /projects/sviewer/?id=XM_017012006.1&search=XM_017012006.1:c.2441G>A&v=1:100&content=5 " target=" _blank ">XM_017012006.1:c.2441G>A</a>, <a href=" /projects/sviewer/?id=XM_047420210.1&search=XM_047420210.1:c.2441G>T&v=1:100&content=5 " target=" _blank ">XM_047420210.1:c.2441G>T</a>, <a href=" /projects/sviewer/?id=XM_047420210.1&search=XM_047420210.1:c.2441G>C&v=1:100&content=5 " target=" _blank ">XM_047420210.1:c.2441G>C</a>, <a href=" /projects/sviewer/?id=XM_047420210.1&search=XM_047420210.1:c.2441G>A&v=1:100&content=5 " target=" _blank ">XM_047420210.1:c.2441G>A</a>, <a href=" /projects/sviewer/?id=XM_047420211.1&search=XM_047420211.1:c.2441G>T&v=1:100&content=5 " target=" _blank ">XM_047420211.1:c.2441G>T</a>, <a href=" /projects/sviewer/?id=XM_047420211.1&search=XM_047420211.1:c.2441G>C&v=1:100&content=5 " target=" _blank ">XM_047420211.1:c.2441G>C</a>, <a href=" /projects/sviewer/?id=XM_047420211.1&search=XM_047420211.1:c.2441G>A&v=1:100&content=5 " target=" _blank ">XM_047420211.1:c.2441G>A</a>, <a href=" /projects/sviewer/?id=XM_047420212.1&search=XM_047420212.1:c.2441G>T&v=1:100&content=5 " target=" _blank ">XM_047420212.1:c.2441G>T</a>, <a href=" /projects/sviewer/?id=XM_047420212.1&search=XM_047420212.1:c.2441G>C&v=1:100&content=5 " target=" _blank ">XM_047420212.1:c.2441G>C</a>, <a href=" /projects/sviewer/?id=XM_047420212.1&search=XM_047420212.1:c.2441G>A&v=1:100&content=5 " target=" _blank ">XM_047420212.1:c.2441G>A</a>, <a href=" /projects/sviewer/?id=XM_047420213.1&search=XM_047420213.1:c.2441G>T&v=1:100&content=5 " target=" _blank ">XM_047420213.1:c.2441G>T</a>, <a href=" /projects/sviewer/?id=XM_047420213.1&search=XM_047420213.1:c.2441G>C&v=1:100&content=5 " target=" _blank ">XM_047420213.1:c.2441G>C</a>, <a href=" /projects/sviewer/?id=XM_047420213.1&search=XM_047420213.1:c.2441G>A&v=1:100&content=5 " target=" _blank ">XM_047420213.1:c.2441G>A</a>, <a href=" /projects/sviewer/?id=NP_149015.2&search=NP_149015.2:p.Ser814Ile&v=1:100&content=5 " target=" _blank ">NP_149015.2:p.Ser814Ile</a>, <a href=" /projects/sviewer/?id=NP_149015.2&search=NP_149015.2:p.Ser814Thr&v=1:100&content=5 " target=" _blank ">NP_149015.2:p.Ser814Thr</a>, <a href=" /projects/sviewer/?id=NP_149015.2&search=NP_149015.2:p.Ser814Asn&v=1:100&content=5 " target=" _blank ">NP_149015.2:p.Ser814Asn</a>, <a href=" /projects/sviewer/?id=NP_055325.2&search=NP_055325.2:p.Ser814Ile&v=1:100&content=5 " target=" _blank ">NP_055325.2:p.Ser814Ile</a>, <a href=" /projects/sviewer/?id=NP_055325.2&search=NP_055325.2:p.Ser814Thr&v=1:100&content=5 " target=" _blank ">NP_055325.2:p.Ser814Thr</a>, <a href=" /projects/sviewer/?id=NP_055325.2&search=NP_055325.2:p.Ser814Asn&v=1:100&content=5 " target=" _blank ">NP_055325.2:p.Ser814Asn</a>, <a href=" /projects/sviewer/?id=XP_016867495.1&search=XP_016867495.1:p.Ser814Ile&v=1:100&content=5 " target=" _blank ">XP_016867495.1:p.Ser814Ile</a>, <a href=" /projects/sviewer/?id=XP_016867495.1&search=XP_016867495.1:p.Ser814Thr&v=1:100&content=5 " target=" _blank ">XP_016867495.1:p.Ser814Thr</a>, <a href=" /projects/sviewer/?id=XP_016867495.1&search=XP_016867495.1:p.Ser814Asn&v=1:100&content=5 " target=" _blank ">XP_016867495.1:p.Ser814Asn</a>, <a href=" /projects/sviewer/?id=XP_047276166.1&search=XP_047276166.1:p.Ser814Ile&v=1:100&content=5 " target=" _blank ">XP_047276166.1:p.Ser814Ile</a>, <a href=" /projects/sviewer/?id=XP_047276166.1&search=XP_047276166.1:p.Ser814Thr&v=1:100&content=5 " target=" _blank ">XP_047276166.1:p.Ser814Thr</a>, <a href=" /projects/sviewer/?id=XP_047276166.1&search=XP_047276166.1:p.Ser814Asn&v=1:100&content=5 " target=" _blank ">XP_047276166.1:p.Ser814Asn</a>, <a href=" /projects/sviewer/?id=XP_047276167.1&search=XP_047276167.1:p.Ser814Ile&v=1:100&content=5 " target=" _blank ">XP_047276167.1:p.Ser814Ile</a>, <a href=" /projects/sviewer/?id=XP_047276167.1&search=XP_047276167.1:p.Ser814Thr&v=1:100&content=5 " target=" _blank ">XP_047276167.1:p.Ser814Thr</a>, <a href=" /projects/sviewer/?id=XP_047276167.1&search=XP_047276167.1:p.Ser814Asn&v=1:100&content=5 " target=" _blank ">XP_047276167.1:p.Ser814Asn</a>, <a href=" /projects/sviewer/?id=XP_047276168.1&search=XP_047276168.1:p.Ser814Ile&v=1:100&content=5 " target=" _blank ">XP_047276168.1:p.Ser814Ile</a>, <a href=" /projects/sviewer/?id=XP_047276168.1&search=XP_047276168.1:p.Ser814Thr&v=1:100&content=5 " target=" _blank ">XP_047276168.1:p.Ser814Thr</a>, <a href=" /projects/sviewer/?id=XP_047276168.1&search=XP_047276168.1:p.Ser814Asn&v=1:100&content=5 " target=" _blank ">XP_047276168.1:p.Ser814Asn</a>, <a href=" /projects/sviewer/?id=XP_047276169.1&search=XP_047276169.1:p.Ser814Ile&v=1:100&content=5 " target=" _blank ">XP_047276169.1:p.Ser814Ile</a>, <a href=" /projects/sviewer/?id=XP_047276169.1&search=XP_047276169.1:p.Ser814Thr&v=1:100&content=5 " target=" _blank ">XP_047276169.1:p.Ser814Thr</a>, <a href=" /projects/sviewer/?id=XP_047276169.1&search=XP_047276169.1:p.Ser814Asn&v=1:100&content=5 " target=" _blank ">XP_047276169.1:p.Ser814Asn</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=2877"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2895" class="ui-helper-hidden-accessible">Select item 2895</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="9" type="checkbox" id="UidCheckBox2895" value="2895" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/snp/2895" ref="ordinalpos=9&ncbi_uid=2895&link_uid=2895"> </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/rs2895">rs2895</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="rs2895:T/C:7:2529136: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><span class="highlight" style="background-color:">7</span>:2529136
|
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:2568770
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:2529135:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">LFNG (<a href="/variation/view/?q=rs2895"><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
|
|
</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=0.089767/11887
|
|
(<a id="alfa_link" href=" /snp/rs2895#frequency_tab ">ALFA</a>)<br />C=0.000546/1
|
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(Korea1K)<br />C=0.000685/2
|
|
(KOREAN)<br />C=0.000991/17
|
|
(TOMMO)<br />C=0.00463/1
|
|
(Qatari)<br />C=0.009346/2
|
|
(Vietnamese)<br />C=0.04/24
|
|
(NorthernSweden)<br />C=0.044035/221
|
|
(1000Genomes)<br />C=0.046117/57
|
|
(HapMap)<br />C=0.066699/139
|
|
(HGDP_Stanford)<br />C=0.069357/9720
|
|
(GnomAD)<br />C=0.071429/4
|
|
(PRJEB36033)<br />C=0.072122/19090
|
|
(TOPMED)<br />C=0.083929/376
|
|
(Estonian)<br />C=0.09018/90
|
|
(GoNL)<br />C=0.101133/375
|
|
(TWINSUK)<br />C=0.105086/405
|
|
(ALSPAC)<br />C=0.191693/120
|
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(Chileans)<br />T=0.4375/21
|
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(SGDP_PRJ)<br />T=0.5/5
|
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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_000007.14&search=NC_000007.14:g.2529136T>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.2529136T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.2568770T>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.2568770T>C</a>, <a href=" /projects/sviewer/?id=NG_008109.2&search=NG_008109.2:g.21608T>C&v=1:100&content=5 " target=" _blank ">NG_008109.2:g.21608T>C</a>, <a href=" /projects/sviewer/?id=NM_001040168.2&search=NM_001040168.2:c.*250T>C&v=1:100&content=5 " target=" _blank ">NM_001040168.2:c.*250T>C</a>, <a href=" /projects/sviewer/?id=NM_001040168.1&search=NM_001040168.1:c.*250T>C&v=1:100&content=5 " target=" _blank ">NM_001040168.1:c.*250T>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=2895"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox3194" class="ui-helper-hidden-accessible">Select item 3194</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="10" type="checkbox" id="UidCheckBox3194" value="3194" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/snp/3194" ref="ordinalpos=10&ncbi_uid=3194&link_uid=3194"> </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/rs3194">rs3194</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="rs3194:A/C/T:7:148417173: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><span class="highlight" style="background-color:">7</span>:148417173
|
|
(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:148114265
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:148417172:A:C,NC_000007.14:148417172:A:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">CNTNAP2 (<a href="/variation/view/?q=rs3194"><span>Varview</span></a>), LOC105375554 (<a href="/variation/view/?q=rs3194"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,3_prime_UTR_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">C=0.441967/63478
|
|
(<a id="alfa_link" href=" /snp/rs3194#frequency_tab ">ALFA</a>)<br />A=0.268601/787
|
|
(KOREAN)<br />A=0.273224/100
|
|
(SGDP_PRJ)<br />A=0.284486/4767
|
|
(TOMMO)<br />C=0.349554/1566
|
|
(Estonian)<br />C=0.357709/50100
|
|
(GnomAD)<br />C=0.361465/681
|
|
(HapMap)<br />C=0.384408/101749
|
|
(TOPMED)<br />C=0.3896/1951
|
|
(1000Genomes)<br />A=0.391304/18
|
|
(Siberian)<br />A=0.412037/89
|
|
(Vietnamese)<br />C=0.430556/93
|
|
(Qatari)<br />C=0.437876/437
|
|
(GoNL)<br />C=0.443176/1708
|
|
(ALSPAC)<br />C=0.453333/272
|
|
(NorthernSweden)<br />C=0.453614/1682
|
|
(TWINSUK)<br />C=0.475/19
|
|
(GENOME_DK)<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.148417173A>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.148417173A>C</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.148417173A>T&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.148417173A>T</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.148114265A>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.148114265A>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.148114265A>T&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.148114265A>T</a>, <a href=" /projects/sviewer/?id=NG_007092.3&search=NG_007092.3:g.2306173A>C&v=1:100&content=5 " target=" _blank ">NG_007092.3:g.2306173A>C</a>, <a href=" /projects/sviewer/?id=NG_007092.3&search=NG_007092.3:g.2306173A>T&v=1:100&content=5 " target=" _blank ">NG_007092.3:g.2306173A>T</a>, <a href=" /projects/sviewer/?id=NM_014141.6&search=NM_014141.6:c.*1557A>C&v=1:100&content=5 " target=" _blank ">NM_014141.6:c.*1557A>C</a>, <a href=" /projects/sviewer/?id=NM_014141.6&search=NM_014141.6:c.*1557A>T&v=1:100&content=5 " target=" _blank ">NM_014141.6:c.*1557A>T</a>, <a href=" /projects/sviewer/?id=NM_014141.5&search=NM_014141.5:c.*1557A>C&v=1:100&content=5 " target=" _blank ">NM_014141.5:c.*1557A>C</a>, <a href=" /projects/sviewer/?id=NM_014141.5&search=NM_014141.5:c.*1557A>T&v=1:100&content=5 " target=" _blank ">NM_014141.5:c.*1557A>T</a>, <a href=" /projects/sviewer/?id=NT_187564.1&search=NT_187564.1:g.200768A>C&v=1:100&content=5 " target=" _blank ">NT_187564.1:g.200768A>C</a>, <a href=" /projects/sviewer/?id=NT_187564.1&search=NT_187564.1:g.200768A>T&v=1:100&content=5 " target=" _blank ">NT_187564.1:g.200768A>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="UidCheckBox3487" class="ui-helper-hidden-accessible">Select item 3487</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="11" type="checkbox" id="UidCheckBox3487" value="3487" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/snp/3487" ref="ordinalpos=11&ncbi_uid=3487&link_uid=3487"> </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/rs3487">rs3487</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>G,T</span><span class="for_snp_flanks" snp_info="rs3487:A/G/T:7:156683695: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><span class="highlight" style="background-color:">7</span>:156683695
|
|
(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:156476389
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:156683694:A:G,NC_000007.14:156683694:A:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">LMBR1 (<a href="/variation/view/?q=rs3487"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_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">G=0.214688/44121
|
|
(<a id="alfa_link" href=" /snp/rs3487#frequency_tab ">ALFA</a>)<br />G=0.117647/4
|
|
(PRJEB36033)<br />G=0.15/6
|
|
(GENOME_DK)<br />G=0.170649/45169
|
|
(TOPMED)<br />G=0.177836/24928
|
|
(GnomAD)<br />G=0.186446/934
|
|
(1000Genomes)<br />G=0.194444/42
|
|
(Qatari)<br />G=0.204233/386
|
|
(HapMap)<br />G=0.213256/444
|
|
(HGDP_Stanford)<br />G=0.216667/130
|
|
(NorthernSweden)<br />G=0.22411/831
|
|
(TWINSUK)<br />G=0.23534/907
|
|
(ALSPAC)<br />G=0.235714/1056
|
|
(Estonian)<br />G=0.236473/236
|
|
(GoNL)<br />G=0.273148/59
|
|
(Vietnamese)<br />G=0.276408/314
|
|
(Daghestan)<br />A=0.416667/10
|
|
(Siberian)<br />G=0.425218/779
|
|
(Korea1K)<br />G=0.425939/1248
|
|
(KOREAN)<br />A=0.451456/93
|
|
(SGDP_PRJ)<br />G=0.459516/7701
|
|
(TOMMO)<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.156683695A>G&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.156683695A>G</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.156683695A>T&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.156683695A>T</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.156476389A>G&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.156476389A>G</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.156476389A>T&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.156476389A>T</a>, <a href=" /projects/sviewer/?id=NG_009240.2&search=NG_009240.2:g.214514T>C&v=1:100&content=5 " target=" _blank ">NG_009240.2:g.214514T>C</a>, <a href=" /projects/sviewer/?id=NG_009240.2&search=NG_009240.2:g.214514T>A&v=1:100&content=5 " target=" _blank ">NG_009240.2:g.214514T>A</a>, <a href=" /projects/sviewer/?id=NM_022458.4&search=NM_022458.4:c.*383T>C&v=1:100&content=5 " target=" _blank ">NM_022458.4:c.*383T>C</a>, <a href=" /projects/sviewer/?id=NM_022458.4&search=NM_022458.4:c.*383T>A&v=1:100&content=5 " target=" _blank ">NM_022458.4:c.*383T>A</a>, <a href=" /projects/sviewer/?id=NM_022458.3&search=NM_022458.3:c.*383T>C&v=1:100&content=5 " target=" _blank ">NM_022458.3:c.*383T>C</a>, <a href=" /projects/sviewer/?id=NM_022458.3&search=NM_022458.3:c.*383T>A&v=1:100&content=5 " target=" _blank ">NM_022458.3:c.*383T>A</a>, <a href=" /projects/sviewer/?id=NM_001363413.2&search=NM_001363413.2:c.*383T>C&v=1:100&content=5 " target=" _blank ">NM_001363413.2:c.*383T>C</a>, <a href=" /projects/sviewer/?id=NM_001363413.2&search=NM_001363413.2:c.*383T>A&v=1:100&content=5 " target=" _blank ">NM_001363413.2:c.*383T>A</a>, <a href=" /projects/sviewer/?id=NM_001363413.1&search=NM_001363413.1:c.*383T>C&v=1:100&content=5 " target=" _blank ">NM_001363413.1:c.*383T>C</a>, <a href=" /projects/sviewer/?id=NM_001363413.1&search=NM_001363413.1:c.*383T>A&v=1:100&content=5 " target=" _blank ">NM_001363413.1:c.*383T>A</a>, <a href=" /projects/sviewer/?id=NM_001350955.2&search=NM_001350955.2:c.*383T>C&v=1:100&content=5 " target=" _blank ">NM_001350955.2:c.*383T>C</a>, <a href=" /projects/sviewer/?id=NM_001350955.2&search=NM_001350955.2:c.*383T>A&v=1:100&content=5 " target=" _blank ">NM_001350955.2:c.*383T>A</a>, <a href=" /projects/sviewer/?id=NM_001350955.1&search=NM_001350955.1:c.*383T>C&v=1:100&content=5 " target=" _blank ">NM_001350955.1:c.*383T>C</a>, <a href=" /projects/sviewer/?id=NM_001350955.1&search=NM_001350955.1:c.*383T>A&v=1:100&content=5 " target=" _blank ">NM_001350955.1:c.*383T>A</a>, <a href=" /projects/sviewer/?id=NM_001350953.2&search=NM_001350953.2:c.*383T>C&v=1:100&content=5 " target=" _blank ">NM_001350953.2:c.*383T>C</a>, <a href=" 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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="UidCheckBox3842" class="ui-helper-hidden-accessible">Select item 3842</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="12" type="checkbox" id="UidCheckBox3842" value="3842" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/snp/3842" ref="ordinalpos=12&ncbi_uid=3842&link_uid=3842"> </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/rs3842">rs3842</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="rs3842:T/C:7:87504050: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><span class="highlight" style="background-color:">7</span>:87504050
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:87133366
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:87504049:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">ABCB1 (<a href="/variation/view/?q=rs3842"><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>drug-response
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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=0.144412/24088
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(<a id="alfa_link" href=" /snp/rs3842#frequency_tab ">ALFA</a>)<br />C=0.112723/505
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(Estonian)<br />C=0.125/5
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(GENOME_DK)<br />C=0.13233/510
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(ALSPAC)<br />C=0.134269/134
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(GoNL)<br />C=0.144013/534
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(TWINSUK)<br />C=0.147456/481
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(PRJEB37766)<br />C=0.149798/74
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(PharmGKB)<br />C=0.155682/21811
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(GnomAD)<br />C=0.159232/42147
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(TOPMED)<br />C=0.176667/106
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(NorthernSweden)<br />C=0.17676/13911
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(PAGE_STUDY)<br />C=0.185353/928
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(1000Genomes)<br />C=0.21254/400
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(HapMap)<br />C=0.212963/46
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(Qatari)<br />C=0.27985/4690
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(TOMMO)<br />C=0.29476/540
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(Korea1K)<br />C=0.304847/239
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(PRJEB37584)<br />C=0.306143/897
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(KOREAN)<br />C=0.320755/68
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(Vietnamese)<br />T=0.416667/5
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(Siberian)<br />T=0.427835/83
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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_000007.14&search=NC_000007.14:g.87504050T>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.87504050T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.87133366T>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.87133366T>C</a>, <a href=" /projects/sviewer/?id=NG_011513.1&search=NG_011513.1:g.214199A>G&v=1:100&content=5 " target=" _blank ">NG_011513.1:g.214199A>G</a>, <a href=" /projects/sviewer/?id=NM_000927.5&search=NM_000927.5:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_000927.5:c.*193A>G</a>, <a href=" /projects/sviewer/?id=NM_000927.4&search=NM_000927.4:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_000927.4:c.*193A>G</a>, <a href=" /projects/sviewer/?id=NM_001348945.2&search=NM_001348945.2:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_001348945.2:c.*193A>G</a>, <a href=" /projects/sviewer/?id=NM_001348945.1&search=NM_001348945.1:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_001348945.1:c.*193A>G</a>, <a href=" /projects/sviewer/?id=NM_001348944.2&search=NM_001348944.2:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_001348944.2:c.*193A>G</a>, <a href=" /projects/sviewer/?id=NM_001348944.1&search=NM_001348944.1:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_001348944.1:c.*193A>G</a>, <a href=" /projects/sviewer/?id=NM_001348946.2&search=NM_001348946.2:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_001348946.2:c.*193A>G</a>, <a href=" /projects/sviewer/?id=NM_001348946.1&search=NM_001348946.1:c.*193A>G&v=1:100&content=5 " target=" _blank ">NM_001348946.1:c.*193A>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"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=3842"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox3917" class="ui-helper-hidden-accessible">Select item 3917</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="13" type="checkbox" id="UidCheckBox3917" value="3917" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/snp/3917" ref="ordinalpos=13&ncbi_uid=3917&link_uid=3917"> </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/rs3917">rs3917</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>INS</dd><dt>Alleles:</dt><dd><span>->G,GCTGTCC,GT,GTTG,GTTGTCC,GTTGTGC</span><span class="for_snp_flanks" snp_info="rs3917:-/G/GCTGTCC/GT/GTTG/GTTGTCC/GTTGTGC:7:94431047:ins:0"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd><span class="highlight" style="background-color:">7</span>:94431047
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:94060360
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:94431047::G,NC_000007.14:94431047::GCTGTCC,NC_000007.14:94431047::GT,NC_000007.14:94431047::GTTG,NC_000007.14:94431047::GTTGTCC,NC_000007.14:94431047::GTTGTGC</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">COL1A2 (<a href="/variation/view/?q=rs3917"><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">GT=0./0
|
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(<a id="alfa_link" href=" /snp/rs3917#frequency_tab ">ALFA</a>)<br />-=0.064265/1077
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(TOMMO)<br />-=0.074782/137
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(Korea1K)<br />-=0.212061/1062
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(1000Genomes)<br />-=0.297457/78734
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(TOPMED)<br />-=0.411273/1525
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(TWINSUK)<br />-=0.426051/1642
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(ALSPAC)<br />-=0.45/18
|
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(GENOME_DK)<br />-=0.454241/2035
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(Estonian)<br />-=0.455/273
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(NorthernSweden)<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.94431047_94431048insG&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94431047_94431048insG</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.94431047_94431048insGCTGTCC&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94431047_94431048insGCTGTCC</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.94431047_94431048insGT&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94431047_94431048insGT</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.94431047_94431048insGTTG&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94431047_94431048insGTTG</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.94431047_94431048insGTTGTCC&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94431047_94431048insGTTGTCC</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.94431047_94431048insGTTGTGC&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94431047_94431048insGTTGTGC</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94060359_94060360insG&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94060359_94060360insG</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94060359_94060360insGCTGTCC&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94060359_94060360insGCTGTCC</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94060359_94060360insGT&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94060359_94060360insGT</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94060359_94060360insGTTG&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94060359_94060360insGTTG</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94060359_94060360insGTTGTCC&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94060359_94060360insGTTGTCC</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94060359_94060360insGTTGTGC&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94060359_94060360insGTTGTGC</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.41487_41488insG&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.41487_41488insG</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.41487_41488insGCTGTCC&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.41487_41488insGCTGTCC</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.41487_41488insGT&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.41487_41488insGT</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.41487_41488insGTTG&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.41487_41488insGTTG</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.41487_41488insGTTGTCC&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.41487_41488insGTTGTCC</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.41487_41488insGTTGTGC&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.41487_41488insGTTGTGC</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.*654_*655insG&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.*654_*655insG</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.*654_*655insGCTGTCC&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.*654_*655insGCTGTCC</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.*654_*655insGT&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.*654_*655insGT</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.*654_*655insGTTG&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.*654_*655insGTTG</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.*654_*655insGTTGTCC&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.*654_*655insGTTGTCC</a>, <a href=" /projects/sviewer/?id=NM_000089.4&search=NM_000089.4:c.*654_*655insGTTGTGC&v=1:100&content=5 " target=" _blank ">NM_000089.4:c.*654_*655insGTTGTGC</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.*654_*655insG&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.*654_*655insG</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.*654_*655insGCTGTCC&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.*654_*655insGCTGTCC</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.*654_*655insGT&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.*654_*655insGT</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.*654_*655insGTTG&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.*654_*655insGTTG</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.*654_*655insGTTGTCC&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.*654_*655insGTTGTCC</a>, <a href=" /projects/sviewer/?id=NM_000089.3&search=NM_000089.3:c.*654_*655insGTTGTGC&v=1:100&content=5 " target=" _blank ">NM_000089.3:c.*654_*655insGTTGTGC</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=3917"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox4266" class="ui-helper-hidden-accessible">Select item 4266</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="14" type="checkbox" id="UidCheckBox4266" value="4266" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/snp/4266" ref="ordinalpos=14&ncbi_uid=4266&link_uid=4266"> </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/rs4266">rs4266</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,G</span><span class="for_snp_flanks" snp_info="rs4266:T/C/G:7:94421296: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><span class="highlight" style="background-color:">7</span>:94421296
|
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:94050608
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:94421295:T:C,NC_000007.14:94421295:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">COL1A2 (<a href="/variation/view/?q=rs4266"><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
|
|
</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=0.135605/2599
|
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(<a id="alfa_link" href=" /snp/rs4266#frequency_tab ">ALFA</a>)<br />G=0.018692/4
|
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(Vietnamese)<br />G=0.081878/150
|
|
(Korea1K)<br />G=0.083618/245
|
|
(KOREAN)<br />G=0.085/51
|
|
(NorthernSweden)<br />G=0.1/4
|
|
(GENOME_DK)<br />G=0.101562/455
|
|
(Estonian)<br />G=0.109218/109
|
|
(GoNL)<br />G=0.113985/1910
|
|
(TOMMO)<br />G=0.12972/481
|
|
(TWINSUK)<br />G=0.131292/506
|
|
(ALSPAC)<br />G=0.143973/721
|
|
(1000Genomes)<br />G=0.145455/48
|
|
(HapMap)<br />G=0.165025/23120
|
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(GnomAD)<br />G=0.168854/44694
|
|
(TOPMED)<br />G=0.236111/51
|
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(Qatari)<br />T=0.421053/48
|
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(SGDP_PRJ)<br />T=0.5/8
|
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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_000007.14&search=NC_000007.14:g.94421296T>C&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94421296T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.94421296T>G&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.94421296T>G</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94050608T>C&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94050608T>C</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.94050608T>G&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.94050608T>G</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.31736T>C&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.31736T>C</a>, <a href=" /projects/sviewer/?id=NG_007405.1&search=NG_007405.1:g.31736T>G&v=1:100&content=5 " target=" _blank ">NG_007405.1:g.31736T>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="UidCheckBox4278" class="ui-helper-hidden-accessible">Select item 4278</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="15" type="checkbox" id="UidCheckBox4278" value="4278" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/snp/4278" ref="ordinalpos=15&ncbi_uid=4278&link_uid=4278"> </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/rs4278">rs4278</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="rs4278:C/A/T:7:92134788: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><span class="highlight" style="background-color:">7</span>:92134788
|
|
(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:91764102
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:92134787:C:A,NC_000007.14:92134787:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">CYP51A1 (<a href="/variation/view/?q=rs4278"><span>Varview</span></a>), CYP51A1-AS1 (<a href="/variation/view/?q=rs4278"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_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=0.00406/57
|
|
(<a id="alfa_link" href=" /snp/rs4278#frequency_tab ">ALFA</a>)<br />T=0.00026/1
|
|
(ALSPAC)<br />T=0.00027/1
|
|
(TWINSUK)<br />T=0.00463/1
|
|
(Qatari)<br />T=0.0242/121
|
|
(1000Genomes)<br />C=0.5/5
|
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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_000007.14&search=NC_000007.14:g.92134788C>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.92134788C>A</a>, <a href=" /projects/sviewer/?id=NC_000007.14&search=NC_000007.14:g.92134788C>T&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.92134788C>T</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.91764102C>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.91764102C>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.91764102C>T&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.91764102C>T</a>, <a href=" /projects/sviewer/?id=NG_007968.1&search=NG_007968.1:g.4739G>T&v=1:100&content=5 " target=" _blank ">NG_007968.1:g.4739G>T</a>, <a href=" /projects/sviewer/?id=NG_007968.1&search=NG_007968.1:g.4739G>A&v=1:100&content=5 " target=" _blank ">NG_007968.1:g.4739G>A</a>, <a href=" /projects/sviewer/?id=NM_001146152.2&search=NM_001146152.2:c.-246G>T&v=1:100&content=5 " target=" _blank ">NM_001146152.2:c.-246G>T</a>, <a href=" /projects/sviewer/?id=NM_001146152.2&search=NM_001146152.2:c.-246G>A&v=1:100&content=5 " target=" _blank ">NM_001146152.2:c.-246G>A</a>, <a href=" /projects/sviewer/?id=NR_122109.1&search=NR_122109.1:n.226C>A&v=1:100&content=5 " target=" _blank ">NR_122109.1:n.226C>A</a>, <a href=" /projects/sviewer/?id=NR_122109.1&search=NR_122109.1:n.226C>T&v=1:100&content=5 " target=" _blank ">NR_122109.1:n.226C>T</a>, <a href=" /projects/sviewer/?id=NR_122110.1&search=NR_122110.1:n.226C>A&v=1:100&content=5 " target=" _blank ">NR_122110.1:n.226C>A</a>, <a href=" /projects/sviewer/?id=NR_122110.1&search=NR_122110.1:n.226C>T&v=1:100&content=5 " target=" _blank ">NR_122110.1:n.226C>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="UidCheckBox4279" class="ui-helper-hidden-accessible">Select item 4279</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="16" type="checkbox" id="UidCheckBox4279" value="4279" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/snp/4279" ref="ordinalpos=16&ncbi_uid=4279&link_uid=4279"> </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/rs4279">rs4279</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</span><span class="for_snp_flanks" snp_info="rs4279:C/A:7:92134814: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><span class="highlight" style="background-color:">7</span>:92134814
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:91764128
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:92134813:C:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">CYP51A1 (<a href="/variation/view/?q=rs4279"><span>Varview</span></a>), CYP51A1-AS1 (<a href="/variation/view/?q=rs4279"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>non_coding_transcript_variant,2KB_upstream_variant,upstream_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">A=0.398787/14011
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(<a id="alfa_link" href=" /snp/rs4279#frequency_tab ">ALFA</a>)<br />A=0.162664/298
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(Korea1K)<br />A=0.168224/36
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(Vietnamese)<br />A=0.194352/3257
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(TOMMO)<br />A=0.198152/579
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(KOREAN)<br />C=0.323529/11
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(Siberian)<br />A=0.325/13
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(GENOME_DK)<br />A=0.353685/1771
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(1000Genomes)<br />A=0.355828/116
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(HapMap)<br />A=0.360714/1616
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(Estonian)<br />A=0.363727/363
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(GoNL)<br />A=0.384304/1425
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(TWINSUK)<br />A=0.400104/1542
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(ALSPAC)<br />A=0.40119/106191
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(TOPMED)<br />A=0.403526/56517
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(GnomAD)<br />C=0.414384/121
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(SGDP_PRJ)<br />A=0.431667/259
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(NorthernSweden)<br />A=0.435185/94
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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_000007.14&search=NC_000007.14:g.92134814C>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.92134814C>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.91764128C>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.91764128C>A</a>, <a href=" /projects/sviewer/?id=NG_007968.1&search=NG_007968.1:g.4713G>T&v=1:100&content=5 " target=" _blank ">NG_007968.1:g.4713G>T</a>, <a href=" /projects/sviewer/?id=NR_122109.1&search=NR_122109.1:n.252C>A&v=1:100&content=5 " target=" _blank ">NR_122109.1:n.252C>A</a>, <a href=" /projects/sviewer/?id=NR_122110.1&search=NR_122110.1:n.252C>A&v=1:100&content=5 " target=" _blank ">NR_122110.1:n.252C>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="UidCheckBox4518" class="ui-helper-hidden-accessible">Select item 4518</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="17" type="checkbox" id="UidCheckBox4518" value="4518" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/snp/4518" ref="ordinalpos=17&ncbi_uid=4518&link_uid=4518"> </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/rs4518">rs4518</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="rs4518:C/T:7:107919746: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><span class="highlight" style="background-color:">7</span>:107919746
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:107560191
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:107919745:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">DLD (<a href="/variation/view/?q=rs4518"><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">C=0.39445/56314
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(<a id="alfa_link" href=" /snp/rs4518#frequency_tab ">ALFA</a>)<br />C=0.122408/2051
|
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(TOMMO)<br />C=0.138646/254
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(Korea1K)<br />C=0.139932/410
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(KOREAN)<br />C=0.153846/8
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(Siberian)<br />C=0.182243/39
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(Vietnamese)<br />C=0.212851/106
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(SGDP_PRJ)<br />C=0.255556/483
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(HapMap)<br />C=0.283417/1419
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(1000Genomes)<br />C=0.327814/86769
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(TOPMED)<br />C=0.334119/46772
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(GnomAD)<br />C=0.365741/79
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(Qatari)<br />C=0.409152/1833
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(Estonian)<br />C=0.41152/1586
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(ALSPAC)<br />C=0.413161/1532
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(TWINSUK)<br />C=0.421844/421
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(GoNL)<br />C=0.428333/257
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(NorthernSweden)<br />C=0.5/20
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(GENOME_DK)<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.107919746C>T&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.107919746C>T</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.107560191C>T&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.107560191C>T</a>, <a href=" /projects/sviewer/?id=NG_008045.1&search=NG_008045.1:g.33606C>T&v=1:100&content=5 " target=" _blank ">NG_008045.1:g.33606C>T</a>, <a href=" /projects/sviewer/?id=NM_000108.5&search=NM_000108.5:c.*487C>T&v=1:100&content=5 " target=" _blank ">NM_000108.5:c.*487C>T</a>, <a href=" /projects/sviewer/?id=NM_000108.4&search=NM_000108.4:c.*487C>T&v=1:100&content=5 " target=" _blank ">NM_000108.4:c.*487C>T</a>, <a href=" /projects/sviewer/?id=NM_000108.3&search=NM_000108.3:c.*487C>T&v=1:100&content=5 " target=" _blank ">NM_000108.3:c.*487C>T</a>, <a href=" /projects/sviewer/?id=NM_001289751.1&search=NM_001289751.1:c.*487C>T&v=1:100&content=5 " target=" _blank ">NM_001289751.1:c.*487C>T</a>, <a href=" /projects/sviewer/?id=NM_001289752.1&search=NM_001289752.1:c.*487C>T&v=1:100&content=5 " target=" _blank ">NM_001289752.1:c.*487C>T</a>, <a href=" /projects/sviewer/?id=NM_001289750.1&search=NM_001289750.1:c.*487C>T&v=1:100&content=5 " target=" _blank ">NM_001289750.1:c.*487C>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="UidCheckBox4526" class="ui-helper-hidden-accessible">Select item 4526</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="18" type="checkbox" id="UidCheckBox4526" value="4526" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/snp/4526" ref="ordinalpos=18&ncbi_uid=4526&link_uid=4526"> </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/rs4526">rs4526</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="rs4526:G/A:7:140015781: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><span class="highlight" style="background-color:">7</span>:140015781
|
|
(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:139715581
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:140015780:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">TBXAS1 (<a href="/variation/view/?q=rs4526"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>genic_downstream_transcript_variant,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
|
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.003179/839
|
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(<a id="alfa_link" href=" /snp/rs4526#frequency_tab ">ALFA</a>)<br />A=0.00027/1
|
|
(TWINSUK)<br />A=0.000778/3
|
|
(ALSPAC)<br />A=0.003333/2
|
|
(NorthernSweden)<br />A=0.00463/1
|
|
(Qatari)<br />A=0.005267/1320
|
|
(GnomAD_exomes)<br />A=0.006644/804
|
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(ExAC)<br />A=0.01839/2578
|
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(GnomAD)<br />A=0.019663/<span class="highlight" style="background-color:">7</span>
|
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(PharmGKB)<br />A=0.019959/5283
|
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(TOPMED)<br />A=0.021298/277
|
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(GoESP)<br />A=0.022642/113
|
|
(1000Genomes)<br />A=0.033232/2612
|
|
(PAGE_STUDY)<br />A=0.047207/71
|
|
(HapMap)<br />G=0.464286/13
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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_000007.14&search=NC_000007.14:g.140015781G>A&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.140015781G>A</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.139715581G>A&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.139715581G>A</a>, <a href=" /projects/sviewer/?id=NG_008422.2&search=NG_008422.2:g.242400G>A&v=1:100&content=5 " target=" _blank ">NG_008422.2:g.242400G>A</a>, <a href=" /projects/sviewer/?id=NM_001061.7&search=NM_001061.7:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_001061.<span class="highlight" style="background-color:">7</span>:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_001061.6&search=NM_001061.6:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_001061.6:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_001061.5&search=NM_001061.5:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_001061.5:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_001061.4&search=NM_001061.4:c.1288G>A&v=1:100&content=5 " target=" _blank ">NM_001061.4:c.1288G>A</a>, <a href=" /projects/sviewer/?id=NM_030984.6&search=NM_030984.6:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_030984.6:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_030984.5&search=NM_030984.5:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_030984.5:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_030984.4&search=NM_030984.4:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_030984.4:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_030984.3&search=NM_030984.3:c.1288G>A&v=1:100&content=5 " target=" _blank ">NM_030984.3:c.1288G>A</a>, <a href=" /projects/sviewer/?id=NM_001130966.5&search=NM_001130966.5:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_001130966.5:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_001130966.4&search=NM_001130966.4:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_001130966.4:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_001130966.3&search=NM_001130966.3:c.1285G>A&v=1:100&content=5 " target=" _blank ">NM_001130966.3:c.1285G>A</a>, <a href=" /projects/sviewer/?id=NM_001130966.2&search=NM_001130966.2:c.1288G>A&v=1:100&content=5 " target=" _blank ">NM_001130966.2:c.1288G>A</a>, <a href=" /projects/sviewer/?id=NM_001166254.4&search=NM_001166254.4:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_001166254.4:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_001166254.3&search=NM_001166254.3:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_001166254.3:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_001166254.2&search=NM_001166254.2:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_001166254.2:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_001166254.1&search=NM_001166254.1:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_001166254.1:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_001166253.4&search=NM_001166253.4:c.1423G>A&v=1:100&content=5 " target=" _blank ">NM_001166253.4:c.1423G>A</a>, <a href=" /projects/sviewer/?id=NM_001166253.3&search=NM_001166253.3:c.1423G>A&v=1:100&content=5 " target=" _blank ">NM_001166253.3:c.1423G>A</a>, <a href=" /projects/sviewer/?id=NM_001166253.2&search=NM_001166253.2:c.1423G>A&v=1:100&content=5 " target=" _blank ">NM_001166253.2:c.1423G>A</a>, <a href=" /projects/sviewer/?id=NM_001166253.1&search=NM_001166253.1:c.1426G>A&v=1:100&content=5 " target=" _blank ">NM_001166253.1:c.1426G>A</a>, <a href=" /projects/sviewer/?id=NM_001314028.4&search=NM_001314028.4:c.1228G>A&v=1:100&content=5 " target=" _blank ">NM_001314028.4:c.1228G>A</a>, <a href=" /projects/sviewer/?id=NM_001314028.3&search=NM_001314028.3:c.1228G>A&v=1:100&content=5 " target=" _blank ">NM_001314028.3:c.1228G>A</a>, <a href=" /projects/sviewer/?id=NM_001314028.2&search=NM_001314028.2:c.1228G>A&v=1:100&content=5 " target=" _blank ">NM_001314028.2:c.1228G>A</a>, <a href=" /projects/sviewer/?id=NM_001314028.1&search=NM_001314028.1:c.1228G>A&v=1:100&content=5 " target=" _blank ">NM_001314028.1:c.1228G>A</a>, <a href=" /projects/sviewer/?id=NM_001366537.3&search=NM_001366537.3:c.1102G>A&v=1:100&content=5 " target=" _blank ">NM_001366537.3:c.1102G>A</a>, <a href=" /projects/sviewer/?id=NM_001366537.2&search=NM_001366537.2:c.1102G>A&v=1:100&content=5 " target=" _blank ">NM_001366537.2:c.1102G>A</a>, <a href=" /projects/sviewer/?id=NM_001366537.1&search=NM_001366537.1:c.1102G>A&v=1:100&content=5 " target=" _blank ">NM_001366537.1:c.1102G>A</a>, <a href=" /projects/sviewer/?id=XM_011516544.4&search=XM_011516544.4:c.1288G>A&v=1:100&content=5 " target=" _blank ">XM_011516544.4:c.1288G>A</a>, <a href=" /projects/sviewer/?id=XM_011516544.3&search=XM_011516544.3:c.1288G>A&v=1:100&content=5 " target=" _blank ">XM_011516544.3:c.1288G>A</a>, <a href=" /projects/sviewer/?id=XM_011516544.2&search=XM_011516544.2:c.1288G>A&v=1:100&content=5 " target=" _blank ">XM_011516544.2:c.1288G>A</a>, <a href=" /projects/sviewer/?id=XM_011516544.1&search=XM_011516544.1:c.1288G>A&v=1:100&content=5 " target=" _blank ">XM_011516544.1:c.1288G>A</a>, <a href=" /projects/sviewer/?id=NR_029394.1&search=NR_029394.1:n.1552G>A&v=1:100&content=5 " target=" _blank ">NR_029394.1:n.1552G>A</a>, <a href=" /projects/sviewer/?id=NP_001052.3&search=NP_001052.3:p.Ala429Thr&v=1:100&content=5 " target=" _blank ">NP_001052.3:p.Ala429Thr</a>, <a href=" /projects/sviewer/?id=NP_112246.3&search=NP_112246.3:p.Ala429Thr&v=1:100&content=5 " target=" _blank ">NP_112246.3:p.Ala429Thr</a>, <a href=" /projects/sviewer/?id=NP_001124438.2&search=NP_001124438.2:p.Ala429Thr&v=1:100&content=5 " target=" _blank ">NP_001124438.2:p.Ala429Thr</a>, <a href=" /projects/sviewer/?id=NP_001159726.1&search=NP_001159726.1:p.Ala362Thr&v=1:100&content=5 " target=" _blank ">NP_001159726.1:p.Ala362Thr</a>, <a href=" /projects/sviewer/?id=NP_001159725.2&search=NP_001159725.2:p.Ala475Thr&v=1:100&content=5 " target=" _blank ">NP_001159725.2:p.Ala475Thr</a>, <a href=" /projects/sviewer/?id=NP_001300957.1&search=NP_001300957.1:p.Ala410Thr&v=1:100&content=5 " target=" _blank ">NP_001300957.1:p.Ala410Thr</a>, <a href=" /projects/sviewer/?id=NP_001353466.1&search=NP_001353466.1:p.Ala368Thr&v=1:100&content=5 " target=" _blank ">NP_001353466.1:p.Ala368Thr</a>, <a href=" /projects/sviewer/?id=XP_011514846.1&search=XP_011514846.1:p.Ala430Thr&v=1:100&content=5 " target=" _blank ">XP_011514846.1:p.Ala430Thr</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="UidCheckBox4527" class="ui-helper-hidden-accessible">Select item 4527</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="19" type="checkbox" id="UidCheckBox4527" value="4527" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/snp/4527" ref="ordinalpos=19&ncbi_uid=4527&link_uid=4527"> </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/rs4527">rs4527</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="rs4527:C/T:7:140015798: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><span class="highlight" style="background-color:">7</span>:140015798
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:139715598
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:140015797:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">TBXAS1 (<a href="/variation/view/?q=rs4527"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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=0.003177/818
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(<a id="alfa_link" href=" /snp/rs4527#frequency_tab ">ALFA</a>)<br />T=0.000035/1
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(TOMMO)<br />T=0.00027/1
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(TWINSUK)<br />T=0.000778/3
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(ALSPAC)<br />T=0.001873/1
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(MGP)<br />T=0.003333/2
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(NorthernSweden)<br />T=0.00463/1
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(Qatari)<br />T=0.004909/1231
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(GnomAD_exomes)<br />T=0.006197/750
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(ExAC)<br />T=0.01715/2405
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(GnomAD)<br />T=0.018618/4928
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(TOPMED)<br />T=0.019988/100
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(1000Genomes)<br />T=0.019991/260
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(GoESP)<br />T=0.022346/8
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(PharmGKB)<br />T=0.026291/2069
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(PAGE_STUDY)<br />T=0.054833/59
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(HapMap)<br />C=0.5/2
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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_000007.14&search=NC_000007.14:g.140015798C>T&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.140015798C>T</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.139715598C>T&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.139715598C>T</a>, <a href=" /projects/sviewer/?id=NG_008422.2&search=NG_008422.2:g.242417C>T&v=1:100&content=5 " target=" _blank ">NG_008422.2:g.242417C>T</a>, <a href=" /projects/sviewer/?id=NM_001061.7&search=NM_001061.7:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_001061.<span class="highlight" style="background-color:">7</span>:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_001061.6&search=NM_001061.6:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_001061.6:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_001061.5&search=NM_001061.5:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_001061.5:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_001061.4&search=NM_001061.4:c.1305C>T&v=1:100&content=5 " target=" _blank ">NM_001061.4:c.1305C>T</a>, <a href=" /projects/sviewer/?id=NM_030984.6&search=NM_030984.6:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_030984.6:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_030984.5&search=NM_030984.5:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_030984.5:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_030984.4&search=NM_030984.4:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_030984.4:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_030984.3&search=NM_030984.3:c.1305C>T&v=1:100&content=5 " target=" _blank ">NM_030984.3:c.1305C>T</a>, <a href=" /projects/sviewer/?id=NM_001130966.5&search=NM_001130966.5:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_001130966.5:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_001130966.4&search=NM_001130966.4:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_001130966.4:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_001130966.3&search=NM_001130966.3:c.1302C>T&v=1:100&content=5 " target=" _blank ">NM_001130966.3:c.1302C>T</a>, <a href=" /projects/sviewer/?id=NM_001130966.2&search=NM_001130966.2:c.1305C>T&v=1:100&content=5 " target=" _blank ">NM_001130966.2:c.1305C>T</a>, <a href=" /projects/sviewer/?id=NM_001166254.4&search=NM_001166254.4:c.1101C>T&v=1:100&content=5 " target=" _blank ">NM_001166254.4:c.1101C>T</a>, <a href=" /projects/sviewer/?id=NM_001166254.3&search=NM_001166254.3:c.1101C>T&v=1:100&content=5 " target=" _blank ">NM_001166254.3:c.1101C>T</a>, <a href=" /projects/sviewer/?id=NM_001166254.2&search=NM_001166254.2:c.1101C>T&v=1:100&content=5 " target=" _blank ">NM_001166254.2:c.1101C>T</a>, <a href=" /projects/sviewer/?id=NM_001166254.1&search=NM_001166254.1:c.1101C>T&v=1:100&content=5 " target=" _blank ">NM_001166254.1:c.1101C>T</a>, <a href=" /projects/sviewer/?id=NM_001166253.4&search=NM_001166253.4:c.1440C>T&v=1:100&content=5 " target=" _blank ">NM_001166253.4:c.1440C>T</a>, <a href=" /projects/sviewer/?id=NM_001166253.3&search=NM_001166253.3:c.1440C>T&v=1:100&content=5 " target=" _blank ">NM_001166253.3:c.1440C>T</a>, <a href=" /projects/sviewer/?id=NM_001166253.2&search=NM_001166253.2:c.1440C>T&v=1:100&content=5 " target=" _blank ">NM_001166253.2:c.1440C>T</a>, <a href=" /projects/sviewer/?id=NM_001166253.1&search=NM_001166253.1:c.1443C>T&v=1:100&content=5 " target=" _blank ">NM_001166253.1:c.1443C>T</a>, <a href=" /projects/sviewer/?id=NM_001314028.4&search=NM_001314028.4:c.1245C>T&v=1:100&content=5 " target=" _blank ">NM_001314028.4:c.1245C>T</a>, <a href=" /projects/sviewer/?id=NM_001314028.3&search=NM_001314028.3:c.1245C>T&v=1:100&content=5 " target=" _blank ">NM_001314028.3:c.1245C>T</a>, <a href=" /projects/sviewer/?id=NM_001314028.2&search=NM_001314028.2:c.1245C>T&v=1:100&content=5 " target=" _blank ">NM_001314028.2:c.1245C>T</a>, <a href=" /projects/sviewer/?id=NM_001314028.1&search=NM_001314028.1:c.1245C>T&v=1:100&content=5 " target=" _blank ">NM_001314028.1:c.1245C>T</a>, <a href=" /projects/sviewer/?id=NM_001366537.3&search=NM_001366537.3:c.1119C>T&v=1:100&content=5 " target=" _blank ">NM_001366537.3:c.1119C>T</a>, <a href=" /projects/sviewer/?id=NM_001366537.2&search=NM_001366537.2:c.1119C>T&v=1:100&content=5 " target=" _blank ">NM_001366537.2:c.1119C>T</a>, <a href=" /projects/sviewer/?id=NM_001366537.1&search=NM_001366537.1:c.1119C>T&v=1:100&content=5 " target=" _blank ">NM_001366537.1:c.1119C>T</a>, <a href=" /projects/sviewer/?id=XM_011516544.4&search=XM_011516544.4:c.1305C>T&v=1:100&content=5 " target=" _blank ">XM_011516544.4:c.1305C>T</a>, <a href=" /projects/sviewer/?id=XM_011516544.3&search=XM_011516544.3:c.1305C>T&v=1:100&content=5 " target=" _blank ">XM_011516544.3:c.1305C>T</a>, <a href=" /projects/sviewer/?id=XM_011516544.2&search=XM_011516544.2:c.1305C>T&v=1:100&content=5 " target=" _blank ">XM_011516544.2:c.1305C>T</a>, <a href=" /projects/sviewer/?id=XM_011516544.1&search=XM_011516544.1:c.1305C>T&v=1:100&content=5 " target=" _blank ">XM_011516544.1:c.1305C>T</a>, <a href=" /projects/sviewer/?id=NR_029394.1&search=NR_029394.1:n.1569C>T&v=1:100&content=5 " target=" _blank ">NR_029394.1:n.1569C>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="UidCheckBox4528" class="ui-helper-hidden-accessible">Select item 4528</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="20" type="checkbox" id="UidCheckBox4528" value="4528" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/snp/4528" ref="ordinalpos=20&ncbi_uid=4528&link_uid=4528"> </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/rs4528">rs4528</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</span><span class="for_snp_flanks" snp_info="rs4528:C/G:7:140015742: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><span class="highlight" style="background-color:">7</span>:140015742
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(GRCh38)<br /><span class="highlight" style="background-color:">7</span>:139715542
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000007.14:140015741:C:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">TBXAS1 (<a href="/variation/view/?q=rs4528"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>genic_downstream_transcript_variant,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
|
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">G=0.002461/110
|
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(<a id="alfa_link" href=" /snp/rs4528#frequency_tab ">ALFA</a>)<br />G=0.002139/535
|
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(GnomAD_exomes)<br />G=0.002753/333
|
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(ExAC)<br />G=0.008535/1197
|
|
(GnomAD)<br />G=0.009026/2389
|
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(TOPMED)<br />G=0.009259/2
|
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(Qatari)<br />G=0.009457/123
|
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(GoESP)<br />G=0.012492/63
|
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(1000Genomes)<br />G=0.014045/5
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(PharmGKB)<br />C=0.5/2
|
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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_000007.14&search=NC_000007.14:g.140015742C>G&v=1:100&content=5 " target=" _blank ">NC_000007.14:g.140015742C>G</a>, <a href=" /projects/sviewer/?id=NC_000007.13&search=NC_000007.13:g.139715542C>G&v=1:100&content=5 " target=" _blank ">NC_000007.13:g.139715542C>G</a>, <a href=" /projects/sviewer/?id=NG_008422.2&search=NG_008422.2:g.242361C>G&v=1:100&content=5 " target=" _blank ">NG_008422.2:g.242361C>G</a>, <a href=" /projects/sviewer/?id=NM_001061.7&search=NM_001061.7:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_001061.<span class="highlight" style="background-color:">7</span>:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_001061.6&search=NM_001061.6:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_001061.6:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_001061.5&search=NM_001061.5:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_001061.5:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_001061.4&search=NM_001061.4:c.1249C>G&v=1:100&content=5 " target=" _blank ">NM_001061.4:c.1249C>G</a>, <a href=" /projects/sviewer/?id=NM_030984.6&search=NM_030984.6:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_030984.6:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_030984.5&search=NM_030984.5:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_030984.5:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_030984.4&search=NM_030984.4:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_030984.4:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_030984.3&search=NM_030984.3:c.1249C>G&v=1:100&content=5 " target=" _blank ">NM_030984.3:c.1249C>G</a>, <a href=" /projects/sviewer/?id=NM_001130966.5&search=NM_001130966.5:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_001130966.5:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_001130966.4&search=NM_001130966.4:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_001130966.4:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_001130966.3&search=NM_001130966.3:c.1246C>G&v=1:100&content=5 " target=" _blank ">NM_001130966.3:c.1246C>G</a>, <a href=" /projects/sviewer/?id=NM_001130966.2&search=NM_001130966.2:c.1249C>G&v=1:100&content=5 " target=" _blank ">NM_001130966.2:c.1249C>G</a>, <a href=" /projects/sviewer/?id=NM_001166254.4&search=NM_001166254.4:c.1045C>G&v=1:100&content=5 " target=" _blank ">NM_001166254.4:c.1045C>G</a>, <a href=" /projects/sviewer/?id=NM_001166254.3&search=NM_001166254.3:c.1045C>G&v=1:100&content=5 " target=" _blank ">NM_001166254.3:c.1045C>G</a>, <a href=" /projects/sviewer/?id=NM_001166254.2&search=NM_001166254.2:c.1045C>G&v=1:100&content=5 " target=" _blank ">NM_001166254.2:c.1045C>G</a>, <a href=" /projects/sviewer/?id=NM_001166254.1&search=NM_001166254.1:c.1045C>G&v=1:100&content=5 " target=" _blank ">NM_001166254.1:c.1045C>G</a>, <a href=" /projects/sviewer/?id=NM_001166253.4&search=NM_001166253.4:c.1384C>G&v=1:100&content=5 " target=" _blank ">NM_001166253.4:c.1384C>G</a>, <a href=" /projects/sviewer/?id=NM_001166253.3&search=NM_001166253.3:c.1384C>G&v=1:100&content=5 " target=" _blank ">NM_001166253.3:c.1384C>G</a>, <a href=" /projects/sviewer/?id=NM_001166253.2&search=NM_001166253.2:c.1384C>G&v=1:100&content=5 " target=" _blank ">NM_001166253.2:c.1384C>G</a>, <a href=" /projects/sviewer/?id=NM_001166253.1&search=NM_001166253.1:c.1387C>G&v=1:100&content=5 " target=" _blank ">NM_001166253.1:c.1387C>G</a>, <a href=" /projects/sviewer/?id=NM_001314028.4&search=NM_001314028.4:c.1189C>G&v=1:100&content=5 " target=" _blank ">NM_001314028.4:c.1189C>G</a>, <a href=" /projects/sviewer/?id=NM_001314028.3&search=NM_001314028.3:c.1189C>G&v=1:100&content=5 " target=" _blank ">NM_001314028.3:c.1189C>G</a>, <a href=" /projects/sviewer/?id=NM_001314028.2&search=NM_001314028.2:c.1189C>G&v=1:100&content=5 " target=" _blank ">NM_001314028.2:c.1189C>G</a>, <a href=" /projects/sviewer/?id=NM_001314028.1&search=NM_001314028.1:c.1189C>G&v=1:100&content=5 " target=" _blank ">NM_001314028.1:c.1189C>G</a>, <a href=" /projects/sviewer/?id=NM_001366537.3&search=NM_001366537.3:c.1063C>G&v=1:100&content=5 " target=" _blank ">NM_001366537.3:c.1063C>G</a>, <a href=" /projects/sviewer/?id=NM_001366537.2&search=NM_001366537.2:c.1063C>G&v=1:100&content=5 " target=" _blank ">NM_001366537.2:c.1063C>G</a>, <a href=" /projects/sviewer/?id=NM_001366537.1&search=NM_001366537.1:c.1063C>G&v=1:100&content=5 " target=" _blank ">NM_001366537.1:c.1063C>G</a>, <a href=" /projects/sviewer/?id=XM_011516544.4&search=XM_011516544.4:c.1249C>G&v=1:100&content=5 " target=" _blank ">XM_011516544.4:c.1249C>G</a>, <a href=" /projects/sviewer/?id=XM_011516544.3&search=XM_011516544.3:c.1249C>G&v=1:100&content=5 " target=" _blank ">XM_011516544.3:c.1249C>G</a>, <a href=" /projects/sviewer/?id=XM_011516544.2&search=XM_011516544.2:c.1249C>G&v=1:100&content=5 " target=" _blank ">XM_011516544.2:c.1249C>G</a>, <a href=" /projects/sviewer/?id=XM_011516544.1&search=XM_011516544.1:c.1249C>G&v=1:100&content=5 " target=" _blank ">XM_011516544.1:c.1249C>G</a>, <a href=" /projects/sviewer/?id=NR_029394.1&search=NR_029394.1:n.1513C>G&v=1:100&content=5 " target=" _blank ">NR_029394.1:n.1513C>G</a>, <a href=" /projects/sviewer/?id=NP_001052.3&search=NP_001052.3:p.Gln416Glu&v=1:100&content=5 " target=" _blank ">NP_001052.3:p.Gln416Glu</a>, <a href=" /projects/sviewer/?id=NP_112246.3&search=NP_112246.3:p.Gln416Glu&v=1:100&content=5 " target=" _blank ">NP_112246.3:p.Gln416Glu</a>, <a href=" /projects/sviewer/?id=NP_001124438.2&search=NP_001124438.2:p.Gln416Glu&v=1:100&content=5 " target=" _blank ">NP_001124438.2:p.Gln416Glu</a>, <a href=" /projects/sviewer/?id=NP_001159726.1&search=NP_001159726.1:p.Gln349Glu&v=1:100&content=5 " target=" _blank ">NP_001159726.1:p.Gln349Glu</a>, <a href=" /projects/sviewer/?id=NP_001159725.2&search=NP_001159725.2:p.Gln462Glu&v=1:100&content=5 " target=" _blank ">NP_001159725.2:p.Gln462Glu</a>, <a href=" /projects/sviewer/?id=NP_001300957.1&search=NP_001300957.1:p.Gln397Glu&v=1:100&content=5 " target=" _blank ">NP_001300957.1:p.Gln397Glu</a>, <a href=" /projects/sviewer/?id=NP_001353466.1&search=NP_001353466.1:p.Gln355Glu&v=1:100&content=5 " target=" _blank ">NP_001353466.1:p.Gln355Glu</a>, <a href=" /projects/sviewer/?id=XP_011514846.1&search=XP_011514846.1:p.Gln417Glu&v=1:100&content=5 " target=" _blank ">XP_011514846.1:p.Gln417Glu</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><script type="text/javascript"><!--
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["Help","window.open('/corehtml/query/static/popup.html','Links_Help','resizable=no, scrollbars=yes, toolbar=no, location=no, directories=no, status=no, menubar=no, copyhistory=no, alwaysRaised=no, depend=no, width=400, height=500');"],
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["TitleText"," Links "]
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]
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var jsmenu3Config = [
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["UseLocalConfig","jsmenu3Config","",""]
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]
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function ShowLinks(url,linkscount)
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{
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var X,Y;
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var H = (linkscount + 5)*30, W = 300;
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if(parseFloat(navigator.appVersion)>= 4) {
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if(navigator.appName=="Netscape") {
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X=window.innerWidth;Y=window.innerHeight;
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if(H > window.innerHeight) { H=window.innerHeight-50;}
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}else{
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X=document.body.offsetWidth;Y=document.body.offsetHeight;
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if(H > document.body.offsetHeight) { H=window.innerHeight-50;}
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}
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Y=(screen.height)/2-H/2;
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X=(screen.width)/2-W/2;
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}
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window.open(url, 'Links','alwaysRaised=yes,screenX='+String(X)+',screenY='+String(Y)+',resizable=no,scrollbars=yes,toolbar=no,location=no,directories=no,status=no,menubar=no,title=no,copyhistory=yes,width='+String(W)+',height='+String(H)).focus();
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}
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--></script><!--
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- - - - - - - - end Results - - - - - -
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--></div>
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<div class="title_and_pager bottom">
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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="pageno2">Page </label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.cPage" id="pageno2" type="text" class="num" sid="6" value="1" last="3101387" /> of 3101387</h3><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="8" 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="9" page="3101387" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Last >></a></div>
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<div class="results_settings bottom"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set2" data-jigconfig="triggerPosition : 'top center',destPosition : 'bottom center',destSelector : '#display_settings_menu2', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set2 ~ 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="12" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="13" href="#" sourceContent="display_settings_menu2" 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="14" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Sorted by SNP_ID</a></li></ul><div id="display_settings_menu2" 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.sPresentation2" sid="21" value="SnpSum" format="" id="SnpSum2" checked="true" /><label for="SnpSum2">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.sPageSize2" sid="11" value="5" id="ps52" /><label for="ps52">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="12" value="10" id="ps102" /><label for="ps102">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="13" value="20" id="ps202" checked="true" /><label for="ps202">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="14" value="50" id="ps502" /><label for="ps502">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="15" value="100" id="ps1002" /><label for="ps1002">100</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="16" value="200" id="ps2002" /><label for="ps2002">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.sSort2" sid="11" value="none" id="none2" /><label for="none2">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="12" value="SNP_ID" id="SNP_ID2" checked="true" /><label for="SNP_ID2">SNP_ID</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="13" value="CHRPOS" id="CHRPOS2" /><label for="CHRPOS2">Chromosome Base Position</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SetDisplay" sid="2" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto2" data-jigconfig="triggerPosition:'top center', destPosition : 'bottom center',destSelector : '#send_to_menu2', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu2" 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_menu2 input[type='radio']").click( function () {
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var selectedValue = jQuery(this).val().toLowerCase();
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var selectedDiv = jQuery("#send_to_menu2 div." + selectedValue);
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if(selectedDiv.is(":hidden")){
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jQuery("#send_to_menu2 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("#sendto2").bind("ncbipopperclose", function(){
|
|
jQuery("#send_to_menu2 div.submenu:visible").css("display","none");
|
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jQuery("#send_to_menu2 input[type='radio']:checked").attr("checked",false);
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});
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</script></h4><div id="send_to_menu2" 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="11" value="File" id="dest_File2" /><label for="dest_File2">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="12" value="AddToClipboard" id="dest_AddToClipboard2" /><label for="dest_AddToClipboard2">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="13" value="AddToCollections" id="dest_AddToCollections2" /><label for="dest_AddToCollections2">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File2" style="display: none;"><p id="submenu_File_hint2" class="hidden"></p><ul><li><label for="file_format2">Format</label><select id="file_format2" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FFormat2" sid="101"><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_sort2">Sort by</label><select id="file_sort2" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FSort2" sid="51"><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="11" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard2" style="display: none;"><p id="submenu_AddToClipboard_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="12" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections2" style="display: none;"><p id="submenu_AddToCollections_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="13" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div></div>
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</div>
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</div>
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div>
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<div class="no_filters app_msg"><p><strong><a href="/sites/myncbi/snp/filters">Filters: </a></strong><a href="/sites/myncbi/snp/filters">Manage Filters</a></p></div>
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<!-- Knowledge/Fact Panel -->
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<div class="portlet">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Find related data</h3>
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</div>
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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>
|
|
<div class="portlet_content">
|
|
<ul class="related">
|
|
<li>
|
|
<label for="rdDatabase">Database: </label>
|
|
<select name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.rdDatabase" sid="1" id="rdDatabase">
|
|
<option value="rddbto">Select</option>
|
|
<option value="bioproject">BioProject</option>
|
|
<option value="biosample">BioSample</option>
|
|
<option value="clinvar">ClinVar</option>
|
|
<option value="gap">dbGaP</option>
|
|
<option value="dbvar">dbVar</option>
|
|
<option value="gene">Gene</option>
|
|
<option value="nuccore">Nucleotide</option>
|
|
<option value="pmc">PMC</option>
|
|
<option value="protein">Protein</option>
|
|
<option value="snp">SNP</option>
|
|
<option value="structure">Structure</option>
|
|
<option value="taxonomy">Taxonomy</option>
|
|
</select>
|
|
</li>
|
|
<li>
|
|
<div id="rdOption" style="display: none;">
|
|
<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="97" />
|
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</div>
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</div>
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<div class="portlet">
|
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Search details</h3>
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</div>
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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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</div>
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<div class="portlet_content">
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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">7[CHR]</textarea>
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<div class="buttonwrap">
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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=97" ref="log$=details">
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See more...
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</a>
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</div>
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div class="portlet_content">
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<div class="action">
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
|
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</a>
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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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</a>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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</a>
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</div>
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<ul id="activity">
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<li class="ra_qry two_line">
|
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<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67c80e816d1ec11b6f9fe879">7[CHR] <span class="number">(62027723)</span></a>
|
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<div class="tertiary">SNP</div>
|
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</li>
|
|
<li class="ra_qry two_line">
|
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67c80e80d5edb449bf83f047">19813529[POSITION_GRCH37] AND 8[CHR] <span class="number">(4)</span></a>
|
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<div class="tertiary">SNP</div>
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</li>
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<li class="ra_qry two_line">
|
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67c80e7f6d1ec11b6f9fd9a0">19956018[POSITION] AND 8[CHR] <span class="number">(4)</span></a>
|
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<div class="tertiary">SNP</div>
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</li>
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<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67c80e7c6d1ec11b6f9fb9c5">SNV AND pathogenic <span class="number">(71768)</span></a>
|
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<div class="tertiary">SNP</div>
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</li>
|
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<li class="ra_rcd ralinkpopper two_line">
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67c80e75feee5b00ac3fee22">The Reference Sequence (RefSeq) Database - The NCBI Handbook</a>
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<div class="ralinkpop offscreen_noflow">The Reference Sequence (RefSeq) Database - The NCBI Handbook<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary"></div>
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</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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<p id="turnOn" class="HTOff">
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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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