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1097 lines
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235 KiB
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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="SNV AND pathogenic" 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=94" 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:'SNV%20AND%20pathogenic',qk:'94',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="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="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 71768</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="71768" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
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<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno">Page </label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.cPage" id="pageno" type="text" class="num" sid="1" value="1" last="3589" /> of 3589</h3><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="3" page="2" accesskey="k" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="4" page="3589" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Last >></a><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.CurrPage" sid="1" type="hidden" value="1" /></div>
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</div>
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<div id="messagearea" class="empty">
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<div><!--
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- - - - - - - - begin Results - - - - - -
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--><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox268" class="ui-helper-hidden-accessible">Select item 268</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="1" type="checkbox" id="UidCheckBox268" value="268" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/snp/268" ref="ordinalpos=1&ncbi_uid=268&link_uid=268"> </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/rs268">rs268</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>A>G</span><span class="for_snp_flanks" snp_info="rs268:A/G:8:19956018:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>8:19956018
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(GRCh38)<br />8:19813529
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000008.11:19956017:A:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">LPL (<a href="/variation/view/?q=rs268"><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>uncertain-significance,risk-factor,conflicting-interpretations-of-pathogenicity,benign,<span class="highlight" style="background-color:">pathogenic</span>
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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=0.016273/3560
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(<a id="alfa_link" href=" /snp/rs268#frequency_tab ">ALFA</a>)<br />G=0.000035/1
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(TOMMO)<br />G=0.004685/23
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(1000Genomes)<br />G=0.004968/391
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(PAGE_STUDY)<br />G=0.00565/4
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(HapMap)<br />G=0.011043/2923
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(TOPMED)<br />G=0.01278/3212
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(GnomAD_exomes)<br />G=0.013109/7
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(MGP)<br />G=0.013158/4
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(FINRISK)<br />G=0.013274/1862
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(GnomAD)<br />G=0.013363/1622
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(ExAC)<br />G=0.018682/72
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(ALSPAC)<br />G=0.019957/74
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(TWINSUK)<br />G=0.023884/107
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(Estonian)<br />G=0.028333/17
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(NorthernSweden)<br />G=0.028571/2
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(PRJEB36033)<br />G=0.03006/30
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(GoNL)<br />G=0.05/2
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(GENOME_DK)<br />A=0.5/1
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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_000008.11&search=NC_000008.11:g.19956018A>G&v=1:100&content=5 " target=" _blank ">NC_000008.11:g.19956018A>G</a>, <a href=" /projects/sviewer/?id=NC_000008.10&search=NC_000008.10:g.19813529A>G&v=1:100&content=5 " target=" _blank ">NC_000008.10:g.19813529A>G</a>, <a href=" /projects/sviewer/?id=NG_008855.2&search=NG_008855.2:g.59302A>G&v=1:100&content=5 " target=" _blank ">NG_008855.2:g.59302A>G</a>, <a href=" /projects/sviewer/?id=NM_000237.3&search=NM_000237.3:c.953A>G&v=1:100&content=5 " target=" _blank ">NM_000237.3:c.953A>G</a>, <a href=" /projects/sviewer/?id=NM_000237.2&search=NM_000237.2:c.953A>G&v=1:100&content=5 " target=" _blank ">NM_000237.2:c.953A>G</a>, <a href=" /projects/sviewer/?id=NP_000228.1&search=NP_000228.1:p.Asn318Ser&v=1:100&content=5 " target=" _blank ">NP_000228.1:p.Asn318Ser</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=268"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox334" class="ui-helper-hidden-accessible">Select item 334</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="2" type="checkbox" id="UidCheckBox334" value="334" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/snp/334" ref="ordinalpos=2&ncbi_uid=334&link_uid=334"> </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/rs334">rs334</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>T>A,C,G</span><span class="for_snp_flanks" snp_info="rs334:T/A/C/G:11:5227002:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>11:5227002
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(GRCh38)<br />11:5248232
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000011.10:5227001:T:A,NC_000011.10:5227001:T:C,NC_000011.10:5227001:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">HBB (<a href="/variation/view/?q=rs334"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign,conflicting-interpretations-of-pathogenicity,protective,likely-benign,<span class="highlight" style="background-color:">pathogenic</span>,other
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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=0.000785/35
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(<a id="alfa_link" href=" /snp/rs334#frequency_tab ">ALFA</a>)<br />A=0./0
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(PRJEB36033)<br />G=0.000546/1
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(Korea1K)<br />G=0.001711/5
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(KOREAN)<br />A=0.00348/874
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(GnomAD_exomes)<br />A=0.004384/532
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(ExAC)<br />A=0.012978/1820
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(GnomAD)<br />A=0.018519/4
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(Qatari)<br />A=0.028732/144
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(1000Genomes)<br />A=0.040373/13
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(HapMap)<br />T=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_000011.10&search=NC_000011.10:g.5227002T>A&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.5227002T>A</a>, <a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.5227002T>C&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.5227002T>C</a>, <a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.5227002T>G&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.5227002T>G</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.5248232T>A&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.5248232T>A</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.5248232T>C&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.5248232T>C</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.5248232T>G&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.5248232T>G</a>, <a href=" /projects/sviewer/?id=NG_000007.3&search=NG_000007.3:g.70614A>T&v=1:100&content=5 " target=" _blank ">NG_000007.3:g.70614A>T</a>, <a href=" /projects/sviewer/?id=NG_000007.3&search=NG_000007.3:g.70614A>G&v=1:100&content=5 " target=" _blank ">NG_000007.3:g.70614A>G</a>, <a href=" /projects/sviewer/?id=NG_000007.3&search=NG_000007.3:g.70614A>C&v=1:100&content=5 " target=" _blank ">NG_000007.3:g.70614A>C</a>, <a href=" /projects/sviewer/?id=NG_059281.1&search=NG_059281.1:g.5070A>T&v=1:100&content=5 " target=" _blank ">NG_059281.1:g.5070A>T</a>, <a href=" /projects/sviewer/?id=NG_059281.1&search=NG_059281.1:g.5070A>G&v=1:100&content=5 " target=" _blank ">NG_059281.1:g.5070A>G</a>, <a href=" /projects/sviewer/?id=NG_059281.1&search=NG_059281.1:g.5070A>C&v=1:100&content=5 " target=" _blank ">NG_059281.1:g.5070A>C</a>, <a href=" /projects/sviewer/?id=NM_000518.5&search=NM_000518.5:c.20A>T&v=1:100&content=5 " target=" _blank ">NM_000518.5:c.20A>T</a>, <a href=" /projects/sviewer/?id=NM_000518.5&search=NM_000518.5:c.20A>G&v=1:100&content=5 " target=" _blank ">NM_000518.5:c.20A>G</a>, <a href=" /projects/sviewer/?id=NM_000518.5&search=NM_000518.5:c.20A>C&v=1:100&content=5 " target=" _blank ">NM_000518.5:c.20A>C</a>, <a href=" /projects/sviewer/?id=NM_000518.4&search=NM_000518.4:c.20A>T&v=1:100&content=5 " target=" _blank ">NM_000518.4:c.20A>T</a>, <a href=" /projects/sviewer/?id=NM_000518.4&search=NM_000518.4:c.20A>G&v=1:100&content=5 " target=" _blank ">NM_000518.4:c.20A>G</a>, <a href=" /projects/sviewer/?id=NM_000518.4&search=NM_000518.4:c.20A>C&v=1:100&content=5 " target=" _blank ">NM_000518.4:c.20A>C</a>, <a href=" /projects/sviewer/?id=NG_046672.1&search=NG_046672.1:g.4937T>A&v=1:100&content=5 " target=" _blank ">NG_046672.1:g.4937T>A</a>, <a href=" /projects/sviewer/?id=NG_046672.1&search=NG_046672.1:g.4937T>C&v=1:100&content=5 " target=" _blank ">NG_046672.1:g.4937T>C</a>, <a href=" /projects/sviewer/?id=NG_046672.1&search=NG_046672.1:g.4937T>G&v=1:100&content=5 " target=" _blank ">NG_046672.1:g.4937T>G</a>, <a href=" /projects/sviewer/?id=NG_042296.1&search=NG_042296.1:g.533T>A&v=1:100&content=5 " target=" _blank ">NG_042296.1:g.533T>A</a>, <a href=" /projects/sviewer/?id=NG_042296.1&search=NG_042296.1:g.533T>C&v=1:100&content=5 " target=" _blank ">NG_042296.1:g.533T>C</a>, <a href=" /projects/sviewer/?id=NG_042296.1&search=NG_042296.1:g.533T>G&v=1:100&content=5 " target=" _blank ">NG_042296.1:g.533T>G</a>, <a href=" /projects/sviewer/?id=NP_000509.1&search=NP_000509.1:p.Glu7Val&v=1:100&content=5 " target=" _blank ">NP_000509.1:p.Glu7Val</a>, <a href=" /projects/sviewer/?id=NP_000509.1&search=NP_000509.1:p.Glu7Gly&v=1:100&content=5 " target=" _blank ">NP_000509.1:p.Glu7Gly</a>, <a href=" /projects/sviewer/?id=NP_000509.1&search=NP_000509.1:p.Glu7Ala&v=1:100&content=5 " target=" _blank ">NP_000509.1:p.Glu7Ala</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=334"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox661" class="ui-helper-hidden-accessible">Select item 661</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="3" type="checkbox" id="UidCheckBox661" value="661" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/snp/661" ref="ordinalpos=3&ncbi_uid=661&link_uid=661"> </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/rs661">rs661</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>A,T</span><span class="for_snp_flanks" snp_info="rs661:G/A/T:14:73217225: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>14:73217225
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(GRCh38)<br />14:73683933
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000014.9:73217224:G:A,NC_000014.9:73217224:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">PSEN1 (<a href="/variation/view/?q=rs661"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,not-provided
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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./0
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(<a id="alfa_link" href=" /snp/rs661#frequency_tab ">ALFA</a>)<br />A=0./0
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(PAGE_STUDY)<br />T=0.000049/6
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(ExAC)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000014.9&search=NC_000014.9:g.73217225G>A&v=1:100&content=5 " target=" _blank ">NC_000014.9:g.73217225G>A</a>, <a href=" /projects/sviewer/?id=NC_000014.9&search=NC_000014.9:g.73217225G>T&v=1:100&content=5 " target=" _blank ">NC_000014.9:g.73217225G>T</a>, <a href=" /projects/sviewer/?id=NC_000014.8&search=NC_000014.8:g.73683933G>A&v=1:100&content=5 " target=" _blank ">NC_000014.8:g.73683933G>A</a>, <a href=" /projects/sviewer/?id=NC_000014.8&search=NC_000014.8:g.73683933G>T&v=1:100&content=5 " target=" _blank ">NC_000014.8:g.73683933G>T</a>, <a href=" /projects/sviewer/?id=NG_007386.2&search=NG_007386.2:g.85755G>A&v=1:100&content=5 " target=" _blank ">NG_007386.2:g.85755G>A</a>, <a href=" /projects/sviewer/?id=NG_007386.2&search=NG_007386.2:g.85755G>T&v=1:100&content=5 " target=" _blank ">NG_007386.2:g.85755G>T</a>, <a href=" /projects/sviewer/?id=NM_000021.4&search=NM_000021.4:c.1229G>A&v=1:100&content=5 " target=" _blank ">NM_000021.4:c.1229G>A</a>, <a href=" /projects/sviewer/?id=NM_000021.4&search=NM_000021.4:c.1229G>T&v=1:100&content=5 " target=" _blank ">NM_000021.4:c.1229G>T</a>, <a href=" /projects/sviewer/?id=NM_000021.3&search=NM_000021.3:c.1229G>A&v=1:100&content=5 " target=" _blank ">NM_000021.3:c.1229G>A</a>, <a href=" /projects/sviewer/?id=NM_000021.3&search=NM_000021.3:c.1229G>T&v=1:100&content=5 " target=" _blank ">NM_000021.3:c.1229G>T</a>, <a href=" /projects/sviewer/?id=NM_007318.3&search=NM_007318.3:c.1217G>A&v=1:100&content=5 " target=" _blank ">NM_007318.3:c.1217G>A</a>, <a href=" /projects/sviewer/?id=NM_007318.3&search=NM_007318.3:c.1217G>T&v=1:100&content=5 " target=" _blank ">NM_007318.3:c.1217G>T</a>, <a href=" /projects/sviewer/?id=NM_007318.2&search=NM_007318.2:c.1217G>A&v=1:100&content=5 " target=" _blank ">NM_007318.2:c.1217G>A</a>, <a href=" /projects/sviewer/?id=NM_007318.2&search=NM_007318.2:c.1217G>T&v=1:100&content=5 " target=" _blank ">NM_007318.2:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_005267864.4&search=XM_005267864.4:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_005267864.4:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_005267864.4&search=XM_005267864.4:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_005267864.4:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_005267864.3&search=XM_005267864.3:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_005267864.3:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_005267864.3&search=XM_005267864.3:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_005267864.3:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_005267864.2&search=XM_005267864.2:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_005267864.2:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_005267864.2&search=XM_005267864.2:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_005267864.2:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_005267864.1&search=XM_005267864.1:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_005267864.1:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_005267864.1&search=XM_005267864.1:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_005267864.1:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_011536974.3&search=XM_011536974.3:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_011536974.3:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_011536974.3&search=XM_011536974.3:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_011536974.3:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_011536974.2&search=XM_011536974.2:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_011536974.2:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_011536974.2&search=XM_011536974.2:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_011536974.2:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_011536974.1&search=XM_011536974.1:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_011536974.1:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_011536974.1&search=XM_011536974.1:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_011536974.1:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_011536972.3&search=XM_011536972.3:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_011536972.3:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_011536972.3&search=XM_011536972.3:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_011536972.3:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_011536972.2&search=XM_011536972.2:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_011536972.2:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_011536972.2&search=XM_011536972.2:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_011536972.2:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_011536972.1&search=XM_011536972.1:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_011536972.1:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_011536972.1&search=XM_011536972.1:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_011536972.1:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_011536973.3&search=XM_011536973.3:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_011536973.3:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_011536973.3&search=XM_011536973.3:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_011536973.3:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_011536973.2&search=XM_011536973.2:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_011536973.2:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_011536973.2&search=XM_011536973.2:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_011536973.2:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_011536973.1&search=XM_011536973.1:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_011536973.1:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_011536973.1&search=XM_011536973.1:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_011536973.1:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_005267866.3&search=XM_005267866.3:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_005267866.3:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_005267866.3&search=XM_005267866.3:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_005267866.3:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_005267866.2&search=XM_005267866.2:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_005267866.2:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_005267866.2&search=XM_005267866.2:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_005267866.2:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_005267866.1&search=XM_005267866.1:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_005267866.1:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_005267866.1&search=XM_005267866.1:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_005267866.1:c.1217G>T</a>, <a href=" /projects/sviewer/?id=XM_047431600.1&search=XM_047431600.1:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_047431600.1:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_047431600.1&search=XM_047431600.1:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_047431600.1:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_047431601.1&search=XM_047431601.1:c.1229G>A&v=1:100&content=5 " target=" _blank ">XM_047431601.1:c.1229G>A</a>, <a href=" /projects/sviewer/?id=XM_047431601.1&search=XM_047431601.1:c.1229G>T&v=1:100&content=5 " target=" _blank ">XM_047431601.1:c.1229G>T</a>, <a href=" /projects/sviewer/?id=XM_047431602.1&search=XM_047431602.1:c.1217G>A&v=1:100&content=5 " target=" _blank ">XM_047431602.1:c.1217G>A</a>, <a href=" /projects/sviewer/?id=XM_047431602.1&search=XM_047431602.1:c.1217G>T&v=1:100&content=5 " target=" _blank ">XM_047431602.1:c.1217G>T</a>, <a href=" /projects/sviewer/?id=NM_007319.1&search=NM_007319.1:c.*184G>A&v=1:100&content=5 " target=" _blank ">NM_007319.1:c.*184G>A</a>, <a href=" /projects/sviewer/?id=NM_007319.1&search=NM_007319.1:c.*184G>T&v=1:100&content=5 " target=" _blank ">NM_007319.1:c.*184G>T</a>, <a href=" /projects/sviewer/?id=NP_000012.1&search=NP_000012.1:p.Cys410Tyr&v=1:100&content=5 " target=" _blank ">NP_000012.1:p.Cys410Tyr</a>, <a href=" /projects/sviewer/?id=NP_000012.1&search=NP_000012.1:p.Cys410Phe&v=1:100&content=5 " target=" _blank ">NP_000012.1:p.Cys410Phe</a>, <a href=" /projects/sviewer/?id=NP_015557.2&search=NP_015557.2:p.Cys406Tyr&v=1:100&content=5 " target=" _blank ">NP_015557.2:p.Cys406Tyr</a>, <a href=" /projects/sviewer/?id=NP_015557.2&search=NP_015557.2:p.Cys406Phe&v=1:100&content=5 " target=" _blank ">NP_015557.2:p.Cys406Phe</a>, <a href=" /projects/sviewer/?id=XP_005267921.1&search=XP_005267921.1:p.Cys410Tyr&v=1:100&content=5 " target=" _blank ">XP_005267921.1:p.Cys410Tyr</a>, <a href=" /projects/sviewer/?id=XP_005267921.1&search=XP_005267921.1:p.Cys410Phe&v=1:100&content=5 " target=" _blank ">XP_005267921.1:p.Cys410Phe</a>, <a href=" /projects/sviewer/?id=XP_011535276.1&search=XP_011535276.1:p.Cys406Tyr&v=1:100&content=5 " target=" _blank ">XP_011535276.1:p.Cys406Tyr</a>, <a href=" /projects/sviewer/?id=XP_011535276.1&search=XP_011535276.1:p.Cys406Phe&v=1:100&content=5 " target=" _blank ">XP_011535276.1:p.Cys406Phe</a>, <a href=" /projects/sviewer/?id=XP_011535274.1&search=XP_011535274.1:p.Cys410Tyr&v=1:100&content=5 " target=" _blank ">XP_011535274.1:p.Cys410Tyr</a>, <a href=" /projects/sviewer/?id=XP_011535274.1&search=XP_011535274.1:p.Cys410Phe&v=1:100&content=5 " target=" _blank ">XP_011535274.1:p.Cys410Phe</a>, <a href=" /projects/sviewer/?id=XP_011535275.1&search=XP_011535275.1:p.Cys406Tyr&v=1:100&content=5 " target=" _blank ">XP_011535275.1:p.Cys406Tyr</a>, <a href=" /projects/sviewer/?id=XP_011535275.1&search=XP_011535275.1:p.Cys406Phe&v=1:100&content=5 " target=" _blank ">XP_011535275.1:p.Cys406Phe</a>, <a href=" /projects/sviewer/?id=XP_005267923.1&search=XP_005267923.1:p.Cys406Tyr&v=1:100&content=5 " target=" _blank ">XP_005267923.1:p.Cys406Tyr</a>, <a href=" /projects/sviewer/?id=XP_005267923.1&search=XP_005267923.1:p.Cys406Phe&v=1:100&content=5 " target=" _blank ">XP_005267923.1:p.Cys406Phe</a>, <a href=" /projects/sviewer/?id=XP_047287556.1&search=XP_047287556.1:p.Cys410Tyr&v=1:100&content=5 " target=" _blank ">XP_047287556.1:p.Cys410Tyr</a>, <a href=" /projects/sviewer/?id=XP_047287556.1&search=XP_047287556.1:p.Cys410Phe&v=1:100&content=5 " target=" _blank ">XP_047287556.1:p.Cys410Phe</a>, <a href=" /projects/sviewer/?id=XP_047287557.1&search=XP_047287557.1:p.Cys410Tyr&v=1:100&content=5 " target=" _blank ">XP_047287557.1:p.Cys410Tyr</a>, <a href=" /projects/sviewer/?id=XP_047287557.1&search=XP_047287557.1:p.Cys410Phe&v=1:100&content=5 " target=" _blank ">XP_047287557.1:p.Cys410Phe</a>, <a href=" /projects/sviewer/?id=XP_047287558.1&search=XP_047287558.1:p.Cys406Tyr&v=1:100&content=5 " target=" _blank ">XP_047287558.1:p.Cys406Tyr</a>, <a href=" /projects/sviewer/?id=XP_047287558.1&search=XP_047287558.1:p.Cys406Phe&v=1:100&content=5 " target=" _blank ">XP_047287558.1:p.Cys406Phe</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=661"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox671" class="ui-helper-hidden-accessible">Select item 671</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="4" type="checkbox" id="UidCheckBox671" value="671" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/snp/671" ref="ordinalpos=4&ncbi_uid=671&link_uid=671"> </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/rs671">rs671</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>A</span><span class="for_snp_flanks" snp_info="rs671:G/A:12:111803962:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>12:111803962
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(GRCh38)<br />12:112241766
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000012.12:111803961:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">ALDH2 (<a href="/variation/view/?q=rs671"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,protective,risk-factor,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">A=0.006055/1921
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(<a id="alfa_link" href=" /snp/rs671#frequency_tab ">ALFA</a>)<br />A=0./0
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(PRJEB36033)<br />A=0./0
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(TWINSUK)<br />A=0.001038/4
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(ALSPAC)<br />A=0.005396/6
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(Daghestan)<br />A=0.005957/835
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(GnomAD)<br />A=0.008958/2371
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(TOPMED)<br />A=0.018882/4582
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(GnomAD_exomes)<br />A=0.021287/1878
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(ExAC)<br />A=0.027166/2138
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(PAGE_STUDY)<br />A=0.033573/168
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(1000Genomes)<br />A=0.129921/99
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(HapMap)<br />A=0.155568/285
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(Korea1K)<br />A=0.172591/505
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(KOREAN)<br />A=0.194034/3252
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(TOMMO)<br />A=0.208609/126
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(Vietnamese)<br />G=0.5/11
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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_000012.12&search=NC_000012.12:g.111803962G>A&v=1:100&content=5 " target=" _blank ">NC_000012.12:g.111803962G>A</a>, <a href=" /projects/sviewer/?id=NC_000012.11&search=NC_000012.11:g.112241766G>A&v=1:100&content=5 " target=" _blank ">NC_000012.11:g.112241766G>A</a>, <a href=" /projects/sviewer/?id=NG_012250.2&search=NG_012250.2:g.42076G>A&v=1:100&content=5 " target=" _blank ">NG_012250.2:g.42076G>A</a>, <a href=" /projects/sviewer/?id=NM_000690.4&search=NM_000690.4:c.1510G>A&v=1:100&content=5 " target=" _blank ">NM_000690.4:c.1510G>A</a>, <a href=" /projects/sviewer/?id=NM_000690.3&search=NM_000690.3:c.1510G>A&v=1:100&content=5 " target=" _blank ">NM_000690.3:c.1510G>A</a>, <a href=" /projects/sviewer/?id=NM_001204889.2&search=NM_001204889.2:c.1369G>A&v=1:100&content=5 " target=" _blank ">NM_001204889.2:c.1369G>A</a>, <a href=" /projects/sviewer/?id=NM_001204889.1&search=NM_001204889.1:c.1369G>A&v=1:100&content=5 " target=" _blank ">NM_001204889.1:c.1369G>A</a>, <a href=" /projects/sviewer/?id=NP_000681.2&search=NP_000681.2:p.Glu504Lys&v=1:100&content=5 " target=" _blank ">NP_000681.2:p.Glu504Lys</a>, <a href=" /projects/sviewer/?id=NP_001191818.1&search=NP_001191818.1:p.Glu457Lys&v=1:100&content=5 " target=" _blank ">NP_001191818.1:p.Glu457Lys</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=671"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox5036" class="ui-helper-hidden-accessible">Select item 5036</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="5" type="checkbox" id="UidCheckBox5036" value="5036" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/snp/5036" ref="ordinalpos=5&ncbi_uid=5036&link_uid=5036"> </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/rs5036">rs5036</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>T>C</span><span class="for_snp_flanks" snp_info="rs5036:T/C:17:44261577:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>17:44261577
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(GRCh38)<br />17:42338945
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000017.11:44261576:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">SLC4A1 (<a href="/variation/view/?q=rs5036"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,missense_variant,5_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,benign-likely-benign,benign,likely-benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">C=0.029842/9246
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(<a id="alfa_link" href=" /snp/rs5036#frequency_tab ">ALFA</a>)<br />C=0.003289/1
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(FINRISK)<br />C=0.011667/7
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(NorthernSweden)<br />C=0.016032/16
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(GoNL)<br />C=0.01753/65
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(TWINSUK)<br />C=0.01808/81
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(Estonian)<br />C=0.021796/84
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(ALSPAC)<br />C=0.022472/12
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(MGP)<br />C=0.025/1
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(GENOME_DK)<br />C=0.042433/5151
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(ExAC)<br />C=0.044606/11216
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(GnomAD_exomes)<br />C=0.050016/7010
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(GnomAD)<br />C=0.058211/15408
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(TOPMED)<br />C=0.060185/13
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(Qatari)<br />C=0.065428/328
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(1000Genomes)<br />C=0.082278/65
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(PRJEB37584)<br />C=0.096981/7632
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(PAGE_STUDY)<br />C=0.105895/194
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(Korea1K)<br />C=0.114676/336
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(KOREAN)<br />C=0.183842/3081
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(TOMMO)<br />T=0.478261/44
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(SGDP_PRJ)<br />T=0.5/2
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(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000017.11&search=NC_000017.11:g.44261577T>C&v=1:100&content=5 " target=" _blank ">NC_000017.11:g.44261577T>C</a>, <a href=" /projects/sviewer/?id=NC_000017.10&search=NC_000017.10:g.42338945T>C&v=1:100&content=5 " target=" _blank ">NC_000017.10:g.42338945T>C</a>, <a href=" /projects/sviewer/?id=NG_007498.1&search=NG_007498.1:g.11558A>G&v=1:100&content=5 " target=" _blank ">NG_007498.1:g.11558A>G</a>, <a href=" /projects/sviewer/?id=NM_000342.4&search=NM_000342.4:c.166A>G&v=1:100&content=5 " target=" _blank ">NM_000342.4:c.166A>G</a>, <a href=" /projects/sviewer/?id=NM_000342.3&search=NM_000342.3:c.166A>G&v=1:100&content=5 " target=" _blank ">NM_000342.3:c.166A>G</a>, <a href=" /projects/sviewer/?id=XM_005257593.6&search=XM_005257593.6:c.-30A>G&v=1:100&content=5 " target=" _blank ">XM_005257593.6:c.-30A>G</a>, <a href=" /projects/sviewer/?id=XM_005257593.5&search=XM_005257593.5:c.-30A>G&v=1:100&content=5 " target=" _blank ">XM_005257593.5:c.-30A>G</a>, <a href=" /projects/sviewer/?id=XM_005257593.4&search=XM_005257593.4:c.-30A>G&v=1:100&content=5 " target=" _blank ">XM_005257593.4:c.-30A>G</a>, <a href=" /projects/sviewer/?id=XM_005257593.3&search=XM_005257593.3:c.-30A>G&v=1:100&content=5 " target=" _blank ">XM_005257593.3:c.-30A>G</a>, <a href=" /projects/sviewer/?id=XM_005257593.2&search=XM_005257593.2:c.-30A>G&v=1:100&content=5 " target=" _blank ">XM_005257593.2:c.-30A>G</a>, <a href=" /projects/sviewer/?id=XM_005257593.1&search=XM_005257593.1:c.-30A>G&v=1:100&content=5 " target=" _blank ">XM_005257593.1:c.-30A>G</a>, <a href=" /projects/sviewer/?id=XM_011525129.3&search=XM_011525129.3:c.166A>G&v=1:100&content=5 " target=" _blank ">XM_011525129.3:c.166A>G</a>, <a href=" /projects/sviewer/?id=XM_011525129.2&search=XM_011525129.2:c.166A>G&v=1:100&content=5 " target=" _blank ">XM_011525129.2:c.166A>G</a>, <a href=" /projects/sviewer/?id=XM_011525129.1&search=XM_011525129.1:c.166A>G&v=1:100&content=5 " target=" _blank ">XM_011525129.1:c.166A>G</a>, <a href=" /projects/sviewer/?id=XM_011525130.2&search=XM_011525130.2:c.166A>G&v=1:100&content=5 " target=" _blank ">XM_011525130.2:c.166A>G</a>, <a href=" /projects/sviewer/?id=XM_011525130.1&search=XM_011525130.1:c.166A>G&v=1:100&content=5 " target=" _blank ">XM_011525130.1:c.166A>G</a>, <a href=" /projects/sviewer/?id=NP_000333.1&search=NP_000333.1:p.Lys56Glu&v=1:100&content=5 " target=" _blank ">NP_000333.1:p.Lys56Glu</a>, <a href=" /projects/sviewer/?id=XP_011523431.1&search=XP_011523431.1:p.Lys56Glu&v=1:100&content=5 " target=" _blank ">XP_011523431.1:p.Lys56Glu</a>, <a href=" /projects/sviewer/?id=XP_011523432.1&search=XP_011523432.1:p.Lys56Glu&v=1:100&content=5 " target=" _blank ">XP_011523432.1:p.Lys56Glu</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="UidCheckBox5051" class="ui-helper-hidden-accessible">Select item 5051</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="6" type="checkbox" id="UidCheckBox5051" value="5051" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/snp/5051" ref="ordinalpos=6&ncbi_uid=5051&link_uid=5051"> </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/rs5051">rs5051</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>A,G,T</span><span class="for_snp_flanks" snp_info="rs5051:C/A/G/T:1:230714126:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>1:230714126
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(GRCh38)<br />1:230849872
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:230714125:C:A,NC_000001.11:230714125:C:G,NC_000001.11:230714125:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">AGT (<a href="/variation/view/?q=rs5051"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign,risk-factor,<span class="highlight" style="background-color:">pathogenic</span>
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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=0.446618/62907
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(<a id="alfa_link" href=" /snp/rs5051#frequency_tab ">ALFA</a>)<br />G=0./0
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(KOREAN)<br />C=0.175764/322
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(Korea1K)<br />C=0.182616/3061
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(TOMMO)<br />C=0.201681/96
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(SGDP_PRJ)<br />C=0.207908/163
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(PRJEB37584)<br />C=0.249778/19657
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(PAGE_STUDY)<br />C=0.265856/503
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(HapMap)<br />C=0.28654/1435
|
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(1000Genomes)<br />T=0.3/12
|
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(GENOME_DK)<br />C=0.347826/16
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(Siberian)<br />C=0.351064/66
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(PharmGKB)<br />T=0.385/231
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(NorthernSweden)<br />C=0.389875/103196
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(TOPMED)<br />T=0.395693/1525
|
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(ALSPAC)<br />T=0.397796/397
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(GoNL)<br />C=0.407407/88
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(Qatari)<br />T=0.412621/1530
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(TWINSUK)<br />C=0.417986/58462
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(GnomAD)<br />T=0.477009/2137
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(Estonian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.230714126C>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.230714126C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.230714126C>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.230714126C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.230714126C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.230714126C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.230849872C>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.230849872C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.230849872C>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.230849872C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.230849872C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.230849872C>T</a>, <a href=" /projects/sviewer/?id=NG_008836.2&search=NG_008836.2:g.5465G>T&v=1:100&content=5 " target=" _blank ">NG_008836.2:g.5465G>T</a>, <a href=" /projects/sviewer/?id=NG_008836.2&search=NG_008836.2:g.5465G>C&v=1:100&content=5 " target=" _blank ">NG_008836.2:g.5465G>C</a>, <a href=" /projects/sviewer/?id=NG_008836.2&search=NG_008836.2:g.5465G>A&v=1:100&content=5 " target=" _blank ">NG_008836.2:g.5465G>A</a>, <a href=" /projects/sviewer/?id=NM_000029.3&search=NM_000029.3:c.-44G>T&v=1:100&content=5 " target=" _blank ">NM_000029.3:c.-44G>T</a>, <a href=" /projects/sviewer/?id=NM_000029.3&search=NM_000029.3:c.-44G>C&v=1:100&content=5 " target=" _blank ">NM_000029.3:c.-44G>C</a>, <a href=" /projects/sviewer/?id=NM_000029.3&search=NM_000029.3:c.-44G>A&v=1:100&content=5 " target=" _blank ">NM_000029.3:c.-44G>A</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=5051"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox5082" class="ui-helper-hidden-accessible">Select item 5082</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="7" type="checkbox" id="UidCheckBox5082" value="5082" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/snp/5082" ref="ordinalpos=7&ncbi_uid=5082&link_uid=5082"> </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/rs5082">rs5082</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>A,C,T</span><span class="for_snp_flanks" snp_info="rs5082:G/A/C/T:1:161223893:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>1:161223893
|
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(GRCh38)<br />1:161193683
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:161223892:G:A,NC_000001.11:161223892:G:C,NC_000001.11:161223892:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">APOA2 (<a href="/variation/view/?q=rs5082"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>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><span class="highlight" style="background-color:">pathogenic</span>
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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=0.373136/93143
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(<a id="alfa_link" href=" /snp/rs5082#frequency_tab ">ALFA</a>)<br />T=0./0
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(KOREAN)<br />G=0.06066/1017
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(TOMMO)<br />G=0.070755/15
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(Vietnamese)<br />G=0.071066/56
|
|
(PRJEB37584)<br />G=0.071507/131
|
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(Korea1K)<br />G=0.174812/93
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|
(SGDP_PRJ)<br />G=0.198732/376
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(HapMap)<br />G=0.2/10
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(Siberian)<br />G=0.227397/17752
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(PAGE_STUDY)<br />G=0.238445/1194
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(1000Genomes)<br />G=0.275/11
|
|
(GENOME_DK)<br />G=0.306139/81032
|
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(TOPMED)<br />G=0.319444/69
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(Qatari)<br />G=0.320183/349
|
|
(PharmGKB)<br />G=0.323999/45343
|
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(GnomAD)<br />G=0.357143/20
|
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(PRJEB36033)<br />G=0.366667/220
|
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(NorthernSweden)<br />G=0.383757/1479
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(ALSPAC)<br />G=0.384304/1425
|
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(TWINSUK)<br />G=0.41984/419
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(GoNL)<br />G=0.449107/2012
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(Estonian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.161223893G>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.161223893G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.161223893G>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.161223893G>C</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.161223893G>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.161223893G>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.161193683G>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.161193683G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.161193683G>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.161193683G>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.161193683G>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.161193683G>T</a>, <a href=" /projects/sviewer/?id=NG_012043.1&search=NG_012043.1:g.4736C>T&v=1:100&content=5 " target=" _blank ">NG_012043.1:g.4736C>T</a>, <a href=" /projects/sviewer/?id=NG_012043.1&search=NG_012043.1:g.4736C>G&v=1:100&content=5 " target=" _blank ">NG_012043.1:g.4736C>G</a>, <a href=" /projects/sviewer/?id=NG_012043.1&search=NG_012043.1:g.4736C>A&v=1:100&content=5 " target=" _blank ">NG_012043.1:g.4736C>A</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=5082"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox5110" class="ui-helper-hidden-accessible">Select item 5110</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="8" type="checkbox" id="UidCheckBox5110" value="5110" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/snp/5110" ref="ordinalpos=8&ncbi_uid=5110&link_uid=5110"> </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/rs5110">rs5110</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>A,G</span><span class="for_snp_flanks" snp_info="rs5110:C/A/G:11:116820918:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>11:116820918
|
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(GRCh38)<br />11:116691634
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000011.10:116820917:C:A,NC_000011.10:116820917:C:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">APOA4 (<a href="/variation/view/?q=rs5110"><span>Varview</span></a>)</span>
|
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.070617/21048
|
|
(<a id="alfa_link" href=" /snp/rs5110#frequency_tab ">ALFA</a>)<br />A=0.024047/120
|
|
(1000Genomes)<br />A=0.029188/2297
|
|
(PAGE_STUDY)<br />A=0.033691/44
|
|
(HapMap)<br />A=0.04886/60
|
|
(PharmGKB)<br />A=0.052285/13128
|
|
(GnomAD_exomes)<br />A=0.05244/6342
|
|
(ExAC)<br />A=0.053267/7471
|
|
(GnomAD)<br />A=0.074906/40
|
|
(MGP)<br />A=0.087648/325
|
|
(TWINSUK)<br />A=0.088176/88
|
|
(GoNL)<br />A=0.094447/364
|
|
(ALSPAC)<br />A=0.096667/58
|
|
(NorthernSweden)<br />A=0.1/4
|
|
(GENOME_DK)<br />C=0.5/11
|
|
(SGDP_PRJ)<br />C=0.5/2
|
|
(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.116820918C>A&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.116820918C>A</a>, <a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.116820918C>G&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.116820918C>G</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.116691634C>A&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.116691634C>A</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.116691634C>G&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.116691634C>G</a>, <a href=" /projects/sviewer/?id=NG_012044.1&search=NG_012044.1:g.7378G>T&v=1:100&content=5 " target=" _blank ">NG_012044.1:g.7378G>T</a>, <a href=" /projects/sviewer/?id=NG_012044.1&search=NG_012044.1:g.7378G>C&v=1:100&content=5 " target=" _blank ">NG_012044.1:g.7378G>C</a>, <a href=" /projects/sviewer/?id=NM_000482.4&search=NM_000482.4:c.1140G>T&v=1:100&content=5 " target=" _blank ">NM_000482.4:c.1140G>T</a>, <a href=" /projects/sviewer/?id=NM_000482.4&search=NM_000482.4:c.1140G>C&v=1:100&content=5 " target=" _blank ">NM_000482.4:c.1140G>C</a>, <a href=" /projects/sviewer/?id=NM_000482.3&search=NM_000482.3:c.1140G>T&v=1:100&content=5 " target=" _blank ">NM_000482.3:c.1140G>T</a>, <a href=" /projects/sviewer/?id=NM_000482.3&search=NM_000482.3:c.1140G>C&v=1:100&content=5 " target=" _blank ">NM_000482.3:c.1140G>C</a>, <a href=" /projects/sviewer/?id=NP_000473.2&search=NP_000473.2:p.Gln380His&v=1:100&content=5 " target=" _blank ">NP_000473.2:p.Gln380His</a>, <a href=" /projects/sviewer/?id=NP_000473.2&search=NP_000473.2:p.Gln380His&v=1:100&content=5 " target=" _blank ">NP_000473.2:p.Gln380His</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=5110"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox5122" class="ui-helper-hidden-accessible">Select item 5122</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="9" type="checkbox" id="UidCheckBox5122" value="5122" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/snp/5122" ref="ordinalpos=9&ncbi_uid=5122&link_uid=5122"> </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/rs5122">rs5122</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>A</span><span class="for_snp_flanks" snp_info="rs5122:G/A:19:44948823: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>19:44948823
|
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(GRCh38)<br />19:45452080
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000019.10:44948822:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">APOC2 (<a href="/variation/view/?q=rs5122"><span>Varview</span></a>), APOC4-APOC2 (<a href="/variation/view/?q=rs5122"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>non_coding_transcript_variant,missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,benign-likely-benign,uncertain-significance
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.000261/52
|
|
(<a id="alfa_link" href=" /snp/rs5122#frequency_tab ">ALFA</a>)<br />A=0.000482/121
|
|
(GnomAD_exomes)<br />A=0.000588/71
|
|
(ExAC)<br />A=0.001562/8
|
|
(1000Genomes)<br />A=0.002274/602
|
|
(TOPMED)<br />A=0.00229/321
|
|
(GnomAD)<br />A=0.00463/1
|
|
(Qatari)<br />A=0.005639/3
|
|
(HapMap)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000019.10&search=NC_000019.10:g.44948823G>A&v=1:100&content=5 " target=" _blank ">NC_000019.10:g.44948823G>A</a>, <a href=" /projects/sviewer/?id=NC_000019.9&search=NC_000019.9:g.45452080G>A&v=1:100&content=5 " target=" _blank ">NC_000019.9:g.45452080G>A</a>, <a href=" /projects/sviewer/?id=NG_008837.1&search=NG_008837.1:g.7838G>A&v=1:100&content=5 " target=" _blank ">NG_008837.1:g.7838G>A</a>, <a href=" /projects/sviewer/?id=NM_000483.5&search=NM_000483.5:c.178G>A&v=1:100&content=5 " target=" _blank ">NM_000483.5:c.178G>A</a>, <a href=" /projects/sviewer/?id=NM_000483.4&search=NM_000483.4:c.178G>A&v=1:100&content=5 " target=" _blank ">NM_000483.4:c.178G>A</a>, <a href=" /projects/sviewer/?id=NR_037932.1&search=NR_037932.1:n.1385G>A&v=1:100&content=5 " target=" _blank ">NR_037932.1:n.1385G>A</a>, <a href=" /projects/sviewer/?id=NP_000474.2&search=NP_000474.2:p.Glu60Lys&v=1:100&content=5 " target=" _blank ">NP_000474.2:p.Glu60Lys</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="UidCheckBox5126" class="ui-helper-hidden-accessible">Select item 5126</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="10" type="checkbox" id="UidCheckBox5126" value="5126" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/snp/5126" ref="ordinalpos=10&ncbi_uid=5126&link_uid=5126"> </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/rs5126">rs5126</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>A>C</span><span class="for_snp_flanks" snp_info="rs5126:A/C:19:44949172: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>19:44949172
|
|
(GRCh38)<br />19:45452429
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000019.10:44949171:A:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">APOC2 (<a href="/variation/view/?q=rs5126"><span>Varview</span></a>), APOC4-APOC2 (<a href="/variation/view/?q=rs5126"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>non_coding_transcript_variant,missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,benign-likely-benign,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=0.00077/154
|
|
(<a id="alfa_link" href=" /snp/rs5126#frequency_tab ">ALFA</a>)<br />C=0.001828/459
|
|
(GnomAD_exomes)<br />C=0.002375/276
|
|
(ExAC)<br />C=0.007841/1098
|
|
(GnomAD)<br />C=0.008255/2185
|
|
(TOPMED)<br />C=0.008901/45
|
|
(1000Genomes)<br />C=0.009259/2
|
|
(Qatari)<br />C=0.012185/959
|
|
(PAGE_STUDY)<br />C=0.021341/7
|
|
(HapMap)<br />A=0.5/1
|
|
(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_000019.10&search=NC_000019.10:g.44949172A>C&v=1:100&content=5 " target=" _blank ">NC_000019.10:g.44949172A>C</a>, <a href=" /projects/sviewer/?id=NC_000019.9&search=NC_000019.9:g.45452429A>C&v=1:100&content=5 " target=" _blank ">NC_000019.9:g.45452429A>C</a>, <a href=" /projects/sviewer/?id=NG_008837.1&search=NG_008837.1:g.8187A>C&v=1:100&content=5 " target=" _blank ">NG_008837.1:g.8187A>C</a>, <a href=" /projects/sviewer/?id=NM_000483.5&search=NM_000483.5:c.229A>C&v=1:100&content=5 " target=" _blank ">NM_000483.5:c.229A>C</a>, <a href=" /projects/sviewer/?id=NM_000483.4&search=NM_000483.4:c.229A>C&v=1:100&content=5 " target=" _blank ">NM_000483.4:c.229A>C</a>, <a href=" /projects/sviewer/?id=NR_037932.1&search=NR_037932.1:n.1436A>C&v=1:100&content=5 " target=" _blank ">NR_037932.1:n.1436A>C</a>, <a href=" /projects/sviewer/?id=NP_000474.2&search=NP_000474.2:p.Lys77Gln&v=1:100&content=5 " target=" _blank ">NP_000474.2:p.Lys77Gln</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="UidCheckBox5736" class="ui-helper-hidden-accessible">Select item 5736</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="11" type="checkbox" id="UidCheckBox5736" value="5736" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/snp/5736" ref="ordinalpos=11&ncbi_uid=5736&link_uid=5736"> </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/rs5736">rs5736</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>A</span><span class="for_snp_flanks" snp_info="rs5736:G/A:16:23189600:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
|
|
</a></span></dd><dt>Chromosome: </dt><dd>16:23189600
|
|
(GRCh38)<br />16:23200921
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000016.10:23189599:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">SCNN1G (<a href="/variation/view/?q=rs5736"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-benign,<span class="highlight" style="background-color:">pathogenic</span>,benign,benign-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">A=0.002693/816
|
|
(<a id="alfa_link" href=" /snp/rs5736#frequency_tab ">ALFA</a>)<br />A=0.000223/1
|
|
(Estonian)<br />A=0.000809/3
|
|
(TWINSUK)<br />A=0.001002/1
|
|
(GoNL)<br />A=0.001038/4
|
|
(ALSPAC)<br />A=0.004088/1028
|
|
(GnomAD_exomes)<br />A=0.004464/5
|
|
(Daghestan)<br />A=0.004753/577
|
|
(ExAC)<br />A=0.006494/4
|
|
(Vietnamese)<br />A=0.008214/24
|
|
(KOREAN)<br />A=0.009259/2
|
|
(Qatari)<br />A=0.011997/201
|
|
(TOMMO)<br />A=0.012057/1691
|
|
(GnomAD)<br />A=0.01314/3478
|
|
(TOPMED)<br />A=0.013741/69
|
|
(1000Genomes)<br />A=0.014738/27
|
|
(Korea1K)<br />A=0.019378/1525
|
|
(PAGE_STUDY)<br />A=0.044242/63
|
|
(HapMap)<br />G=0.5/3
|
|
(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_000016.10&search=NC_000016.10:g.23189600G>A&v=1:100&content=5 " target=" _blank ">NC_000016.10:g.23189600G>A</a>, <a href=" /projects/sviewer/?id=NC_000016.9&search=NC_000016.9:g.23200921G>A&v=1:100&content=5 " target=" _blank ">NC_000016.9:g.23200921G>A</a>, <a href=" /projects/sviewer/?id=NG_011909.1&search=NG_011909.1:g.11882G>A&v=1:100&content=5 " target=" _blank ">NG_011909.1:g.11882G>A</a>, <a href=" /projects/sviewer/?id=NM_001039.4&search=NM_001039.4:c.547G>A&v=1:100&content=5 " target=" _blank ">NM_001039.4:c.547G>A</a>, <a href=" /projects/sviewer/?id=NM_001039.3&search=NM_001039.3:c.547G>A&v=1:100&content=5 " target=" _blank ">NM_001039.3:c.547G>A</a>, <a href=" /projects/sviewer/?id=NP_001030.2&search=NP_001030.2:p.Gly183Ser&v=1:100&content=5 " target=" _blank ">NP_001030.2:p.Gly183Ser</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="UidCheckBox5738" class="ui-helper-hidden-accessible">Select item 5738</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="12" type="checkbox" id="UidCheckBox5738" value="5738" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/snp/5738" ref="ordinalpos=12&ncbi_uid=5738&link_uid=5738"> </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/rs5738">rs5738</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>A,C</span><span class="for_snp_flanks" snp_info="rs5738:G/A/C:16:23189642:snv:1"><a class="anchor_show_flank_toggle">
|
|
[Show Flanks]
|
|
</a></span></dd><dt>Chromosome: </dt><dd>16:23189642
|
|
(GRCh38)<br />16:23200963
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000016.10:23189641:G:A,NC_000016.10:23189641:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">SCNN1G (<a href="/variation/view/?q=rs5738"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,benign,uncertain-significance,likely-benign,benign-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">A=0.008768/2725
|
|
(<a id="alfa_link" href=" /snp/rs5738#frequency_tab ">ALFA</a>)<br />A=0.000071/1
|
|
(TOMMO)<br />A=0.002498/13
|
|
(1000Genomes)<br />A=0.003348/15
|
|
(Estonian)<br />A=0.004008/4
|
|
(GoNL)<br />A=0.004396/346
|
|
(PAGE_STUDY)<br />A=0.004731/574
|
|
(ExAC)<br />A=0.005027/1264
|
|
(GnomAD_exomes)<br />A=0.005482/769
|
|
(GnomAD)<br />A=0.005958/1577
|
|
(TOPMED)<br />A=0.007491/4
|
|
(MGP)<br />A=0.007551/28
|
|
(TWINSUK)<br />A=0.0096/37
|
|
(ALSPAC)<br />A=0.012371/12
|
|
(HapMap)<br />A=0.013889/3
|
|
(Qatari)<br />A=0.025/1
|
|
(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_000016.10&search=NC_000016.10:g.23189642G>A&v=1:100&content=5 " target=" _blank ">NC_000016.10:g.23189642G>A</a>, <a href=" /projects/sviewer/?id=NC_000016.10&search=NC_000016.10:g.23189642G>C&v=1:100&content=5 " target=" _blank ">NC_000016.10:g.23189642G>C</a>, <a href=" /projects/sviewer/?id=NC_000016.9&search=NC_000016.9:g.23200963G>A&v=1:100&content=5 " target=" _blank ">NC_000016.9:g.23200963G>A</a>, <a href=" /projects/sviewer/?id=NC_000016.9&search=NC_000016.9:g.23200963G>C&v=1:100&content=5 " target=" _blank ">NC_000016.9:g.23200963G>C</a>, <a href=" /projects/sviewer/?id=NG_011909.1&search=NG_011909.1:g.11924G>A&v=1:100&content=5 " target=" _blank ">NG_011909.1:g.11924G>A</a>, <a href=" /projects/sviewer/?id=NG_011909.1&search=NG_011909.1:g.11924G>C&v=1:100&content=5 " target=" _blank ">NG_011909.1:g.11924G>C</a>, <a href=" /projects/sviewer/?id=NM_001039.4&search=NM_001039.4:c.589G>A&v=1:100&content=5 " target=" _blank ">NM_001039.4:c.589G>A</a>, <a href=" /projects/sviewer/?id=NM_001039.4&search=NM_001039.4:c.589G>C&v=1:100&content=5 " target=" _blank ">NM_001039.4:c.589G>C</a>, <a href=" /projects/sviewer/?id=NM_001039.3&search=NM_001039.3:c.589G>A&v=1:100&content=5 " target=" _blank ">NM_001039.3:c.589G>A</a>, <a href=" /projects/sviewer/?id=NM_001039.3&search=NM_001039.3:c.589G>C&v=1:100&content=5 " target=" _blank ">NM_001039.3:c.589G>C</a>, <a href=" /projects/sviewer/?id=NP_001030.2&search=NP_001030.2:p.Glu197Lys&v=1:100&content=5 " target=" _blank ">NP_001030.2:p.Glu197Lys</a>, <a href=" /projects/sviewer/?id=NP_001030.2&search=NP_001030.2:p.Glu197Gln&v=1:100&content=5 " target=" _blank ">NP_001030.2:p.Glu197Gln</a></span></div></dd>
|
|
</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox6025" class="ui-helper-hidden-accessible">Select item 6025</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="13" type="checkbox" id="UidCheckBox6025" value="6025" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/snp/6025" ref="ordinalpos=13&ncbi_uid=6025&link_uid=6025"> </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/rs6025">rs6025</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>A,T</span><span class="for_snp_flanks" snp_info="rs6025:C/A/T:1:169549811:snv:1"><a class="anchor_show_flank_toggle">
|
|
[Show Flanks]
|
|
</a></span></dd><dt>Chromosome: </dt><dd>1:169549811
|
|
(GRCh38)<br />1:169519049
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:169549810:C:A,NC_000001.11:169549810:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">F5 (<a href="/variation/view/?q=rs6025"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign,conflicting-interpretations-of-pathogenicity,uncertain-significance,<span class="highlight" style="background-color:">pathogenic</span>,risk-factor
|
|
</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=0.022585/3828
|
|
(<a id="alfa_link" href=" /snp/rs6025#frequency_tab ">ALFA</a>)<br />T=0./0
|
|
(KOREAN)<br />T=0.005934/38
|
|
(1000Genomes)<br />T=0.006175/486
|
|
(PAGE_STUDY)<br />T=0.008818/10
|
|
(HapMap)<br />T=0.016744/4432
|
|
(TOPMED)<br />T=0.017619/2471
|
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(GnomAD)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.169549811C>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.169549811C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.169549811C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.169549811C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.169519049T>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.169519049T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.169519049T>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.169519049T>A</a>, <a href=" /projects/sviewer/?id=NG_011806.1&search=NG_011806.1:g.41721G>T&v=1:100&content=5 " target=" _blank ">NG_011806.1:g.41721G>T</a>, <a href=" /projects/sviewer/?id=NG_011806.1&search=NG_011806.1:g.41721G>A&v=1:100&content=5 " target=" _blank ">NG_011806.1:g.41721G>A</a>, <a href=" /projects/sviewer/?id=NM_000130.5&search=NM_000130.5:c.1601G>T&v=1:100&content=5 " target=" _blank ">NM_000130.5:c.1601G>T</a>, <a href=" /projects/sviewer/?id=NM_000130.5&search=NM_000130.5:c.1601G>A&v=1:100&content=5 " target=" _blank ">NM_000130.5:c.1601G>A</a>, <a href=" /projects/sviewer/?id=NM_000130.4&search=NM_000130.4:c.1601G>T&v=1:100&content=5 " target=" _blank ">NM_000130.4:c.1601G>T</a>, <a href=" /projects/sviewer/?id=NM_000130.4&search=NM_000130.4:c.1601G>A&v=1:100&content=5 " target=" _blank ">NM_000130.4:c.1601G>A</a>, <a href=" /projects/sviewer/?id=NP_000121.2&search=NP_000121.2:p.Arg534Leu&v=1:100&content=5 " target=" _blank ">NP_000121.2:p.Arg534Leu</a>, <a href=" /projects/sviewer/?id=NP_000121.2&search=NP_000121.2:p.Arg534Gln&v=1:100&content=5 " target=" _blank ">NP_000121.2:p.Arg534Gln</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=6025"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox6063" class="ui-helper-hidden-accessible">Select item 6063</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="14" type="checkbox" id="UidCheckBox6063" value="6063" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/snp/6063" ref="ordinalpos=14&ncbi_uid=6063&link_uid=6063"> </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/rs6063">rs6063</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>T</span><span class="for_snp_flanks" snp_info="rs6063:C/T:4:154609725: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>4:154609725
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(GRCh38)<br />4:155530877
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000004.12:154609724:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">FGG (<a href="/variation/view/?q=rs6063"><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>uncertain-significance,benign,likely-benign,<span class="highlight" style="background-color:">pathogenic</span>
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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=0.005155/1047
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(<a id="alfa_link" href=" /snp/rs6063#frequency_tab ">ALFA</a>)<br />T=0.001761/2
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(Daghestan)<br />T=0.001786/8
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(Estonian)<br />T=0.002541/200
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(PAGE_STUDY)<br />T=0.002705/328
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(ExAC)<br />T=0.00281/706
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(GnomAD_exomes)<br />T=0.002967/15
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(1000Genomes)<br />T=0.003389/475
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(GnomAD)<br />T=0.003646/965
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(TOPMED)<br />T=0.003745/2
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(MGP)<br />T=0.003776/14
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(TWINSUK)<br />T=0.005/3
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(NorthernSweden)<br />T=0.006012/6
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(GoNL)<br />T=0.006746/26
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(ALSPAC)<br />T=0.008316/8
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(HapMap)<br />T=0.04/2
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(PRJEB36033)<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_000004.12&search=NC_000004.12:g.154609725C>T&v=1:100&content=5 " target=" _blank ">NC_000004.12:g.154609725C>T</a>, <a href=" /projects/sviewer/?id=NC_000004.11&search=NC_000004.11:g.155530877C>T&v=1:100&content=5 " target=" _blank ">NC_000004.11:g.155530877C>T</a>, <a href=" /projects/sviewer/?id=NG_008834.1&search=NG_008834.1:g.8026G>A&v=1:100&content=5 " target=" _blank ">NG_008834.1:g.8026G>A</a>, <a href=" /projects/sviewer/?id=NM_000509.6&search=NM_000509.6:c.571G>A&v=1:100&content=5 " target=" _blank ">NM_000509.6:c.571G>A</a>, <a href=" /projects/sviewer/?id=NM_000509.5&search=NM_000509.5:c.571G>A&v=1:100&content=5 " target=" _blank ">NM_000509.5:c.571G>A</a>, <a href=" /projects/sviewer/?id=NM_000509.4&search=NM_000509.4:c.571G>A&v=1:100&content=5 " target=" _blank ">NM_000509.4:c.571G>A</a>, <a href=" /projects/sviewer/?id=NM_021870.3&search=NM_021870.3:c.571G>A&v=1:100&content=5 " target=" _blank ">NM_021870.3:c.571G>A</a>, <a href=" /projects/sviewer/?id=NM_021870.2&search=NM_021870.2:c.571G>A&v=1:100&content=5 " target=" _blank ">NM_021870.2:c.571G>A</a>, <a href=" /projects/sviewer/?id=NP_000500.2&search=NP_000500.2:p.Gly191Arg&v=1:100&content=5 " target=" _blank ">NP_000500.2:p.Gly191Arg</a>, <a href=" /projects/sviewer/?id=NP_068656.2&search=NP_068656.2:p.Gly191Arg&v=1:100&content=5 " target=" _blank ">NP_068656.2:p.Gly191Arg</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=6063"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox6189" class="ui-helper-hidden-accessible">Select item 6189</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="15" type="checkbox" id="UidCheckBox6189" value="6189" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/snp/6189" ref="ordinalpos=15&ncbi_uid=6189&link_uid=6189"> </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/rs6189">rs6189</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>A,T</span><span class="for_snp_flanks" snp_info="rs6189:C/A/T:5:143400774:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>5:143400774
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(GRCh38)<br />5:142780339
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000005.10:143400773:C:A,NC_000005.10:143400773:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">NR3C1 (<a href="/variation/view/?q=rs6189"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,synonymous_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign,benign-likely-benign,<span class="highlight" style="background-color:">pathogenic</span>
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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=0.023647/4114
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(<a id="alfa_link" href=" /snp/rs6189#frequency_tab ">ALFA</a>)<br />T=0./0
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(KOREAN)<br />T=0.005858/461
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(PAGE_STUDY)<br />T=0.009506/5
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(PharmGKB)<br />T=0.009681/48
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(1000Genomes)<br />T=0.013109/7
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(MGP)<br />T=0.014889/3941
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(TOPMED)<br />T=0.016848/2363
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(GnomAD)<br />T=0.017837/2163
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(ExAC)<br />T=0.020913/272
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(GoESP)<br />T=0.022321/100
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(Estonian)<br />T=0.023026/7
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(FINRISK)<br />T=0.025/1
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(GENOME_DK)<br />T=0.025801/29
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(Daghestan)<br />T=0.026969/100
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(TWINSUK)<br />T=0.027054/27
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(GoNL)<br />T=0.028333/17
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(NorthernSweden)<br />T=0.030358/117
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(ALSPAC)<br />C=0.5/10
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(SGDP_PRJ)<br />C=0.5/2
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(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.143400774C>A&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.143400774C>A</a>, <a href=" /projects/sviewer/?id=NC_000005.10&search=NC_000005.10:g.143400774C>T&v=1:100&content=5 " target=" _blank ">NC_000005.10:g.143400774C>T</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.142780339C>A&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.142780339C>A</a>, <a href=" /projects/sviewer/?id=NC_000005.9&search=NC_000005.9:g.142780339C>T&v=1:100&content=5 " target=" _blank ">NC_000005.9:g.142780339C>T</a>, <a href=" /projects/sviewer/?id=NG_009062.1&search=NG_009062.1:g.39739G>T&v=1:100&content=5 " target=" _blank ">NG_009062.1:g.39739G>T</a>, <a href=" /projects/sviewer/?id=NG_009062.1&search=NG_009062.1:g.39739G>A&v=1:100&content=5 " target=" _blank ">NG_009062.1:g.39739G>A</a>, <a href=" /projects/sviewer/?id=NM_000176.3&search=NM_000176.3:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_000176.3:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_000176.3&search=NM_000176.3:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_000176.3:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_000176.2&search=NM_000176.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_000176.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_000176.2&search=NM_000176.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_000176.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001024094.2&search=NM_001024094.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001024094.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001024094.2&search=NM_001024094.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001024094.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001024094.1&search=NM_001024094.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001024094.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001024094.1&search=NM_001024094.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001024094.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001204264.2&search=NM_001204264.2:c.-940G>T&v=1:100&content=5 " target=" _blank ">NM_001204264.2:c.-940G>T</a>, <a href=" /projects/sviewer/?id=NM_001204264.2&search=NM_001204264.2:c.-940G>A&v=1:100&content=5 " target=" _blank ">NM_001204264.2:c.-940G>A</a>, <a href=" /projects/sviewer/?id=NM_001204264.1&search=NM_001204264.1:c.-940G>T&v=1:100&content=5 " target=" _blank ">NM_001204264.1:c.-940G>T</a>, <a href=" /projects/sviewer/?id=NM_001204264.1&search=NM_001204264.1:c.-940G>A&v=1:100&content=5 " target=" _blank ">NM_001204264.1:c.-940G>A</a>, <a href=" /projects/sviewer/?id=NM_001204263.2&search=NM_001204263.2:c.-925G>T&v=1:100&content=5 " target=" _blank ">NM_001204263.2:c.-925G>T</a>, <a href=" /projects/sviewer/?id=NM_001204263.2&search=NM_001204263.2:c.-925G>A&v=1:100&content=5 " target=" _blank ">NM_001204263.2:c.-925G>A</a>, <a href=" /projects/sviewer/?id=NM_001204263.1&search=NM_001204263.1:c.-925G>T&v=1:100&content=5 " target=" _blank ">NM_001204263.1:c.-925G>T</a>, <a href=" /projects/sviewer/?id=NM_001204263.1&search=NM_001204263.1:c.-925G>A&v=1:100&content=5 " target=" _blank ">NM_001204263.1:c.-925G>A</a>, <a href=" /projects/sviewer/?id=NM_001204262.2&search=NM_001204262.2:c.-880G>T&v=1:100&content=5 " target=" _blank ">NM_001204262.2:c.-880G>T</a>, <a href=" /projects/sviewer/?id=NM_001204262.2&search=NM_001204262.2:c.-880G>A&v=1:100&content=5 " target=" _blank ">NM_001204262.2:c.-880G>A</a>, <a href=" /projects/sviewer/?id=NM_001204262.1&search=NM_001204262.1:c.-880G>T&v=1:100&content=5 " target=" _blank ">NM_001204262.1:c.-880G>T</a>, <a href=" /projects/sviewer/?id=NM_001204262.1&search=NM_001204262.1:c.-880G>A&v=1:100&content=5 " target=" _blank ">NM_001204262.1:c.-880G>A</a>, <a href=" /projects/sviewer/?id=NM_001204261.2&search=NM_001204261.2:c.-226G>T&v=1:100&content=5 " target=" _blank ">NM_001204261.2:c.-226G>T</a>, <a href=" /projects/sviewer/?id=NM_001204261.2&search=NM_001204261.2:c.-226G>A&v=1:100&content=5 " target=" _blank ">NM_001204261.2:c.-226G>A</a>, <a href=" /projects/sviewer/?id=NM_001204261.1&search=NM_001204261.1:c.-226G>T&v=1:100&content=5 " target=" _blank ">NM_001204261.1:c.-226G>T</a>, <a href=" /projects/sviewer/?id=NM_001204261.1&search=NM_001204261.1:c.-226G>A&v=1:100&content=5 " target=" _blank ">NM_001204261.1:c.-226G>A</a>, <a href=" /projects/sviewer/?id=NM_001204260.2&search=NM_001204260.2:c.-202G>T&v=1:100&content=5 " target=" _blank ">NM_001204260.2:c.-202G>T</a>, <a href=" /projects/sviewer/?id=NM_001204260.2&search=NM_001204260.2:c.-202G>A&v=1:100&content=5 " target=" _blank ">NM_001204260.2:c.-202G>A</a>, <a href=" /projects/sviewer/?id=NM_001204260.1&search=NM_001204260.1:c.-202G>T&v=1:100&content=5 " target=" _blank ">NM_001204260.1:c.-202G>T</a>, <a href=" /projects/sviewer/?id=NM_001204260.1&search=NM_001204260.1:c.-202G>A&v=1:100&content=5 " target=" _blank ">NM_001204260.1:c.-202G>A</a>, <a href=" /projects/sviewer/?id=NM_001204259.2&search=NM_001204259.2:c.-190G>T&v=1:100&content=5 " target=" _blank ">NM_001204259.2:c.-190G>T</a>, <a href=" /projects/sviewer/?id=NM_001204259.2&search=NM_001204259.2:c.-190G>A&v=1:100&content=5 " target=" _blank ">NM_001204259.2:c.-190G>A</a>, <a href=" /projects/sviewer/?id=NM_001204259.1&search=NM_001204259.1:c.-190G>T&v=1:100&content=5 " target=" _blank ">NM_001204259.1:c.-190G>T</a>, <a href=" /projects/sviewer/?id=NM_001204259.1&search=NM_001204259.1:c.-190G>A&v=1:100&content=5 " target=" _blank ">NM_001204259.1:c.-190G>A</a>, <a href=" /projects/sviewer/?id=NM_001204258.2&search=NM_001204258.2:c.-13G>T&v=1:100&content=5 " target=" _blank ">NM_001204258.2:c.-13G>T</a>, <a href=" /projects/sviewer/?id=NM_001204258.2&search=NM_001204258.2:c.-13G>A&v=1:100&content=5 " target=" _blank ">NM_001204258.2:c.-13G>A</a>, <a href=" /projects/sviewer/?id=NM_001204258.1&search=NM_001204258.1:c.-13G>T&v=1:100&content=5 " target=" _blank ">NM_001204258.1:c.-13G>T</a>, <a href=" /projects/sviewer/?id=NM_001204258.1&search=NM_001204258.1:c.-13G>A&v=1:100&content=5 " target=" _blank ">NM_001204258.1:c.-13G>A</a>, <a href=" /projects/sviewer/?id=NM_001364183.2&search=NM_001364183.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364183.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364183.2&search=NM_001364183.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364183.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364183.1&search=NM_001364183.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364183.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364183.1&search=NM_001364183.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364183.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364181.2&search=NM_001364181.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364181.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364181.2&search=NM_001364181.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364181.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364181.1&search=NM_001364181.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364181.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364181.1&search=NM_001364181.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364181.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364180.2&search=NM_001364180.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364180.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364180.2&search=NM_001364180.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364180.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364180.1&search=NM_001364180.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364180.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364180.1&search=NM_001364180.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364180.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364184.2&search=NM_001364184.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364184.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364184.2&search=NM_001364184.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364184.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364184.1&search=NM_001364184.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364184.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364184.1&search=NM_001364184.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364184.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001018076.2&search=NM_001018076.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001018076.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001018076.2&search=NM_001018076.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001018076.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001018076.1&search=NM_001018076.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001018076.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001018076.1&search=NM_001018076.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001018076.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001020825.2&search=NM_001020825.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001020825.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001020825.2&search=NM_001020825.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001020825.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001020825.1&search=NM_001020825.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001020825.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001020825.1&search=NM_001020825.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001020825.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001204265.2&search=NM_001204265.2:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001204265.2:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001204265.2&search=NM_001204265.2:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001204265.2:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001204265.1&search=NM_001204265.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001204265.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001204265.1&search=NM_001204265.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001204265.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001018077.1&search=NM_001018077.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001018077.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001018077.1&search=NM_001018077.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001018077.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364185.1&search=NM_001364185.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364185.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364185.1&search=NM_001364185.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364185.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001364182.1&search=NM_001364182.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001364182.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001364182.1&search=NM_001364182.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001364182.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001018074.1&search=NM_001018074.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001018074.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001018074.1&search=NM_001018074.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001018074.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NM_001018075.1&search=NM_001018075.1:c.66G>T&v=1:100&content=5 " target=" _blank ">NM_001018075.1:c.66G>T</a>, <a href=" /projects/sviewer/?id=NM_001018075.1&search=NM_001018075.1:c.66G>A&v=1:100&content=5 " target=" _blank ">NM_001018075.1:c.66G>A</a>, <a href=" /projects/sviewer/?id=NP_000167.1&search=NP_000167.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_000167.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001019265.1&search=NP_001019265.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001019265.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001351112.1&search=NP_001351112.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001351112.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001351110.1&search=NP_001351110.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001351110.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001351109.1&search=NP_001351109.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001351109.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001351113.1&search=NP_001351113.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001351113.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001018086.1&search=NP_001018086.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001018086.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001018661.1&search=NP_001018661.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001018661.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001191194.1&search=NP_001191194.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001191194.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001018087.1&search=NP_001018087.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001018087.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001351114.1&search=NP_001351114.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001351114.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001351111.1&search=NP_001351111.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001351111.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001018084.1&search=NP_001018084.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001018084.1:p.Glu22Asp</a>, <a href=" /projects/sviewer/?id=NP_001018085.1&search=NP_001018085.1:p.Glu22Asp&v=1:100&content=5 " target=" _blank ">NP_001018085.1:p.Glu22Asp</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=6189"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox6256" class="ui-helper-hidden-accessible">Select item 6256</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="16" type="checkbox" id="UidCheckBox6256" value="6256" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/snp/6256" ref="ordinalpos=16&ncbi_uid=6256&link_uid=6256"> </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/rs6256">rs6256</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>A,T</span><span class="for_snp_flanks" snp_info="rs6256:G/A/T:11:13492506:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>11:13492506
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(GRCh38)<br />11:13514053
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000011.10:13492505:G:A,NC_000011.10:13492505:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">PTH (<a href="/variation/view/?q=rs6256"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>synonymous_variant,stop_gained,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-<span class="highlight" style="background-color:">pathogenic</span>,<span class="highlight" style="background-color:">pathogenic</span>,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=0.125234/6955
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(<a id="alfa_link" href=" /snp/rs6256#frequency_tab ">ALFA</a>)<br />T=0.099229/1663
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(TOMMO)<br />T=0.103659/34
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(HapMap)<br />T=0.109836/67
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(Vietnamese)<br />T=0.121512/32163
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(TOPMED)<br />T=0.125546/230
|
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(Korea1K)<br />T=0.128333/77
|
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(NorthernSweden)<br />T=0.129021/377
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(KOREAN)<br />T=0.145313/651
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(Estonian)<br />T=0.149299/149
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(GoNL)<br />T=0.149438/748
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(1000Genomes)<br />T=0.152318/46
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(FINRISK)<br />T=0.153182/568
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(TWINSUK)<br />T=0.15698/605
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(ALSPAC)<br />T=0.161057/19544
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(ExAC)<br />T=0.166667/89
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(MGP)<br />T=0.319444/69
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(Qatari)<br />G=0.426667/64
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(SGDP_PRJ)<br />G=0.5/6
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(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.13492506G>A&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.13492506G>A</a>, <a href=" /projects/sviewer/?id=NC_000011.10&search=NC_000011.10:g.13492506G>T&v=1:100&content=5 " target=" _blank ">NC_000011.10:g.13492506G>T</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.13514053G>A&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.13514053G>A</a>, <a href=" /projects/sviewer/?id=NC_000011.9&search=NC_000011.9:g.13514053G>T&v=1:100&content=5 " target=" _blank ">NC_000011.9:g.13514053G>T</a>, <a href=" /projects/sviewer/?id=NG_008962.1&search=NG_008962.1:g.8515C>T&v=1:100&content=5 " target=" _blank ">NG_008962.1:g.8515C>T</a>, <a href=" /projects/sviewer/?id=NG_008962.1&search=NG_008962.1:g.8515C>A&v=1:100&content=5 " target=" _blank ">NG_008962.1:g.8515C>A</a>, <a href=" /projects/sviewer/?id=NM_000315.4&search=NM_000315.4:c.247C>T&v=1:100&content=5 " target=" _blank ">NM_000315.4:c.247C>T</a>, <a href=" /projects/sviewer/?id=NM_000315.4&search=NM_000315.4:c.247C>A&v=1:100&content=5 " target=" _blank ">NM_000315.4:c.247C>A</a>, <a href=" /projects/sviewer/?id=NM_000315.3&search=NM_000315.3:c.247C>T&v=1:100&content=5 " target=" _blank ">NM_000315.3:c.247C>T</a>, <a href=" /projects/sviewer/?id=NM_000315.3&search=NM_000315.3:c.247C>A&v=1:100&content=5 " target=" _blank ">NM_000315.3:c.247C>A</a>, <a href=" /projects/sviewer/?id=NM_000315.2&search=NM_000315.2:c.247C>T&v=1:100&content=5 " target=" _blank ">NM_000315.2:c.247C>T</a>, <a href=" /projects/sviewer/?id=NM_000315.2&search=NM_000315.2:c.247C>A&v=1:100&content=5 " target=" _blank ">NM_000315.2:c.247C>A</a>, <a href=" /projects/sviewer/?id=NM_001316352.2&search=NM_001316352.2:c.343C>T&v=1:100&content=5 " target=" _blank ">NM_001316352.2:c.343C>T</a>, <a href=" /projects/sviewer/?id=NM_001316352.2&search=NM_001316352.2:c.343C>A&v=1:100&content=5 " target=" _blank ">NM_001316352.2:c.343C>A</a>, <a href=" /projects/sviewer/?id=NM_001316352.1&search=NM_001316352.1:c.343C>T&v=1:100&content=5 " target=" _blank ">NM_001316352.1:c.343C>T</a>, <a href=" /projects/sviewer/?id=NM_001316352.1&search=NM_001316352.1:c.343C>A&v=1:100&content=5 " target=" _blank ">NM_001316352.1:c.343C>A</a>, <a href=" /projects/sviewer/?id=NP_000306.1&search=NP_000306.1:p.Arg83Ter&v=1:100&content=5 " target=" _blank ">NP_000306.1:p.Arg83Ter</a>, <a href=" /projects/sviewer/?id=NP_001303281.1&search=NP_001303281.1:p.Arg115Ter&v=1:100&content=5 " target=" _blank ">NP_001303281.1:p.Arg115Ter</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=6256"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox6336" class="ui-helper-hidden-accessible">Select item 6336</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="17" type="checkbox" id="UidCheckBox6336" value="6336" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/snp/6336" ref="ordinalpos=17&ncbi_uid=6336&link_uid=6336"> </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/rs6336">rs6336</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>A,G,T</span><span class="for_snp_flanks" snp_info="rs6336:C/A/G/T:1:156879126:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>1:156879126
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(GRCh38)<br />1:156848918
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:156879125:C:A,NC_000001.11:156879125:C:G,NC_000001.11:156879125:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">NTRK1 (<a href="/variation/view/?q=rs6336"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,benign-likely-benign,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=0.054655/6004
|
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(<a id="alfa_link" href=" /snp/rs6336#frequency_tab ">ALFA</a>)<br />T=0.000684/2
|
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(KOREAN)<br />T=0.001263/1
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(PRJEB37584)<br />T=0.015244/5
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(HapMap)<br />T=0.019392/1526
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(PAGE_STUDY)<br />T=0.023179/7
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(FINRISK)<br />T=0.02436/122
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(1000Genomes)<br />T=0.036552/9675
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(TOPMED)<br />T=0.036964/5180
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(GnomAD)<br />T=0.037037/8
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(Qatari)<br />T=0.041647/10359
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(GnomAD_exomes)<br />T=0.042526/5104
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(ExAC)<br />T=0.04509/45
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(GoNL)<br />T=0.05/2
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(GENOME_DK)<br />T=0.050562/27
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(MGP)<br />T=0.051667/31
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(NorthernSweden)<br />T=0.055556/206
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(TWINSUK)<br />T=0.058381/225
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(ALSPAC)<br />T=0.058955/264
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(Estonian)<br />C=0.5/2
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(Siberian)<br />C=0.5/20
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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_000001.11&search=NC_000001.11:g.156879126C>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156879126C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156879126C>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156879126C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.156879126C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156879126C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156848918C>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156848918C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156848918C>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156848918C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156848918C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156848918C>T</a>, <a href=" /projects/sviewer/?id=NG_007493.1&search=NG_007493.1:g.68377C>A&v=1:100&content=5 " target=" _blank ">NG_007493.1:g.68377C>A</a>, <a href=" /projects/sviewer/?id=NG_007493.1&search=NG_007493.1:g.68377C>G&v=1:100&content=5 " target=" _blank ">NG_007493.1:g.68377C>G</a>, <a href=" /projects/sviewer/?id=NG_007493.1&search=NG_007493.1:g.68377C>T&v=1:100&content=5 " target=" _blank ">NG_007493.1:g.68377C>T</a>, <a href=" /projects/sviewer/?id=NM_002529.4&search=NM_002529.4:c.1810C>A&v=1:100&content=5 " target=" _blank ">NM_002529.4:c.1810C>A</a>, <a href=" /projects/sviewer/?id=NM_002529.4&search=NM_002529.4:c.1810C>G&v=1:100&content=5 " target=" _blank ">NM_002529.4:c.1810C>G</a>, <a href=" /projects/sviewer/?id=NM_002529.4&search=NM_002529.4:c.1810C>T&v=1:100&content=5 " target=" _blank ">NM_002529.4:c.1810C>T</a>, <a href=" /projects/sviewer/?id=NM_002529.3&search=NM_002529.3:c.1810C>A&v=1:100&content=5 " target=" _blank ">NM_002529.3:c.1810C>A</a>, <a href=" /projects/sviewer/?id=NM_002529.3&search=NM_002529.3:c.1810C>G&v=1:100&content=5 " target=" _blank ">NM_002529.3:c.1810C>G</a>, <a href=" /projects/sviewer/?id=NM_002529.3&search=NM_002529.3:c.1810C>T&v=1:100&content=5 " target=" _blank ">NM_002529.3:c.1810C>T</a>, <a href=" /projects/sviewer/?id=NM_001012331.2&search=NM_001012331.2:c.1792C>A&v=1:100&content=5 " target=" _blank ">NM_001012331.2:c.1792C>A</a>, <a href=" /projects/sviewer/?id=NM_001012331.2&search=NM_001012331.2:c.1792C>G&v=1:100&content=5 " target=" _blank ">NM_001012331.2:c.1792C>G</a>, <a href=" /projects/sviewer/?id=NM_001012331.2&search=NM_001012331.2:c.1792C>T&v=1:100&content=5 " target=" _blank ">NM_001012331.2:c.1792C>T</a>, <a href=" /projects/sviewer/?id=NM_001012331.1&search=NM_001012331.1:c.1792C>A&v=1:100&content=5 " target=" _blank ">NM_001012331.1:c.1792C>A</a>, <a href=" /projects/sviewer/?id=NM_001012331.1&search=NM_001012331.1:c.1792C>G&v=1:100&content=5 " target=" _blank ">NM_001012331.1:c.1792C>G</a>, <a href=" /projects/sviewer/?id=NM_001012331.1&search=NM_001012331.1:c.1792C>T&v=1:100&content=5 " target=" _blank ">NM_001012331.1:c.1792C>T</a>, <a href=" /projects/sviewer/?id=NM_001007792.1&search=NM_001007792.1:c.1702C>A&v=1:100&content=5 " target=" _blank ">NM_001007792.1:c.1702C>A</a>, <a href=" /projects/sviewer/?id=NM_001007792.1&search=NM_001007792.1:c.1702C>G&v=1:100&content=5 " target=" _blank ">NM_001007792.1:c.1702C>G</a>, <a href=" /projects/sviewer/?id=NM_001007792.1&search=NM_001007792.1:c.1702C>T&v=1:100&content=5 " target=" _blank ">NM_001007792.1:c.1702C>T</a>, <a href=" /projects/sviewer/?id=NM_001007204.1&search=NM_001007204.1:c.1810C>A&v=1:100&content=5 " target=" _blank ">NM_001007204.1:c.1810C>A</a>, <a href=" /projects/sviewer/?id=NM_001007204.1&search=NM_001007204.1:c.1810C>G&v=1:100&content=5 " target=" _blank ">NM_001007204.1:c.1810C>G</a>, <a href=" /projects/sviewer/?id=NM_001007204.1&search=NM_001007204.1:c.1810C>T&v=1:100&content=5 " target=" _blank ">NM_001007204.1:c.1810C>T</a>, <a href=" /projects/sviewer/?id=NP_002520.2&search=NP_002520.2:p.His604Asn&v=1:100&content=5 " target=" _blank ">NP_002520.2:p.His604Asn</a>, <a href=" /projects/sviewer/?id=NP_002520.2&search=NP_002520.2:p.His604Asp&v=1:100&content=5 " target=" _blank ">NP_002520.2:p.His604Asp</a>, <a href=" /projects/sviewer/?id=NP_002520.2&search=NP_002520.2:p.His604Tyr&v=1:100&content=5 " target=" _blank ">NP_002520.2:p.His604Tyr</a>, <a href=" /projects/sviewer/?id=NP_001012331.1&search=NP_001012331.1:p.His598Asn&v=1:100&content=5 " target=" _blank ">NP_001012331.1:p.His598Asn</a>, <a href=" /projects/sviewer/?id=NP_001012331.1&search=NP_001012331.1:p.His598Asp&v=1:100&content=5 " target=" _blank ">NP_001012331.1:p.His598Asp</a>, <a href=" /projects/sviewer/?id=NP_001012331.1&search=NP_001012331.1:p.His598Tyr&v=1:100&content=5 " target=" _blank ">NP_001012331.1:p.His598Tyr</a>, <a href=" /projects/sviewer/?id=NP_001007793.1&search=NP_001007793.1:p.His568Asn&v=1:100&content=5 " target=" _blank ">NP_001007793.1:p.His568Asn</a>, <a href=" /projects/sviewer/?id=NP_001007793.1&search=NP_001007793.1:p.His568Asp&v=1:100&content=5 " target=" _blank ">NP_001007793.1:p.His568Asp</a>, <a href=" /projects/sviewer/?id=NP_001007793.1&search=NP_001007793.1:p.His568Tyr&v=1:100&content=5 " target=" _blank ">NP_001007793.1:p.His568Tyr</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=6336"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox6339" class="ui-helper-hidden-accessible">Select item 6339</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="18" type="checkbox" id="UidCheckBox6339" value="6339" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/snp/6339" ref="ordinalpos=18&ncbi_uid=6339&link_uid=6339"> </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/rs6339">rs6339</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>G>T</span><span class="for_snp_flanks" snp_info="rs6339:G/T:1:156879154:snv:1"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>1:156879154
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(GRCh38)<br />1:156848946
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:156879153:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">NTRK1 (<a href="/variation/view/?q=rs6339"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>,benign-likely-benign,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=0.052982/12245
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(<a id="alfa_link" href=" /snp/rs6339#frequency_tab ">ALFA</a>)<br />T=0.000685/2
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(KOREAN)<br />T=0.001263/1
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(PRJEB37584)<br />T=0.019428/1529
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(PAGE_STUDY)<br />T=0.023179/7
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(FINRISK)<br />T=0.02436/122
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(1000Genomes)<br />T=0.031397/40
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(HapMap)<br />T=0.036575/9681
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(TOPMED)<br />T=0.036982/5183
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(GnomAD)<br />T=0.037037/8
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(Qatari)<br />T=0.041676/10381
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(GnomAD_exomes)<br />T=0.042404/5101
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(ExAC)<br />T=0.04509/45
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(GoNL)<br />T=0.051667/31
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(NorthernSweden)<br />T=0.052434/28
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(MGP)<br />T=0.055556/206
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(TWINSUK)<br />T=0.058482/262
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(Estonian)<br />T=0.05864/226
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(ALSPAC)<br />G=0.5/2
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(Siberian)<br />G=0.5/20
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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_000001.11&search=NC_000001.11:g.156879154G>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.156879154G>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.156848946G>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.156848946G>T</a>, <a href=" /projects/sviewer/?id=NG_007493.1&search=NG_007493.1:g.68405G>T&v=1:100&content=5 " target=" _blank ">NG_007493.1:g.68405G>T</a>, <a href=" /projects/sviewer/?id=NM_002529.4&search=NM_002529.4:c.1838G>T&v=1:100&content=5 " target=" _blank ">NM_002529.4:c.1838G>T</a>, <a href=" /projects/sviewer/?id=NM_002529.3&search=NM_002529.3:c.1838G>T&v=1:100&content=5 " target=" _blank ">NM_002529.3:c.1838G>T</a>, <a href=" /projects/sviewer/?id=NM_001012331.2&search=NM_001012331.2:c.1820G>T&v=1:100&content=5 " target=" _blank ">NM_001012331.2:c.1820G>T</a>, <a href=" /projects/sviewer/?id=NM_001012331.1&search=NM_001012331.1:c.1820G>T&v=1:100&content=5 " target=" _blank ">NM_001012331.1:c.1820G>T</a>, <a href=" /projects/sviewer/?id=NM_001007792.1&search=NM_001007792.1:c.1730G>T&v=1:100&content=5 " target=" _blank ">NM_001007792.1:c.1730G>T</a>, <a href=" /projects/sviewer/?id=NM_001007204.1&search=NM_001007204.1:c.1838G>T&v=1:100&content=5 " target=" _blank ">NM_001007204.1:c.1838G>T</a>, <a href=" /projects/sviewer/?id=NP_002520.2&search=NP_002520.2:p.Gly613Val&v=1:100&content=5 " target=" _blank ">NP_002520.2:p.Gly613Val</a>, <a href=" /projects/sviewer/?id=NP_001012331.1&search=NP_001012331.1:p.Gly607Val&v=1:100&content=5 " target=" _blank ">NP_001012331.1:p.Gly607Val</a>, <a href=" /projects/sviewer/?id=NP_001007793.1&search=NP_001007793.1:p.Gly577Val&v=1:100&content=5 " target=" _blank ">NP_001007793.1:p.Gly577Val</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=6339"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox6445" class="ui-helper-hidden-accessible">Select item 6445</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="19" type="checkbox" id="UidCheckBox6445" value="6445" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/snp/6445" ref="ordinalpos=19&ncbi_uid=6445&link_uid=6445"> </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/rs6445">rs6445</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>T</span><span class="for_snp_flanks" snp_info="rs6445:C/T:6:32041006: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>6:32041006
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(GRCh38)<br />6:32008783
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000006.12:32041005:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">CYP21A2 (<a href="/variation/view/?q=rs6445"><span>Varview</span></a>), TNXB (<a href="/variation/view/?q=rs6445"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd><span class="highlight" style="background-color:">pathogenic</span>
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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=0.004661/118
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(<a id="alfa_link" href=" /snp/rs6445#frequency_tab ">ALFA</a>)<br />T=0.001718/9
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(1000Genomes)<br />T=0.002278/29
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(ExAC)<br />T=0.004597/633
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(GnomAD_exomes)<br />T=0.005304/741
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(GnomAD)<br />T=0.025/1
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(GENOME_DK)<br />C=0.25/1
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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_000006.12&search=NC_000006.12:g.32041006C>T&v=1:100&content=5 " target=" _blank ">NC_000006.12:g.32041006C>T</a>, <a href=" /projects/sviewer/?id=NC_000006.11&search=NC_000006.11:g.32008783C>T&v=1:100&content=5 " target=" _blank ">NC_000006.11:g.32008783C>T</a>, <a href=" /projects/sviewer/?id=NG_007941.3&search=NG_007941.3:g.7702C>T&v=1:100&content=5 " target=" _blank ">NG_007941.3:g.7702C>T</a>, <a href=" /projects/sviewer/?id=NM_000500.9&search=NM_000500.9:c.1360C>T&v=1:100&content=5 " target=" _blank ">NM_000500.9:c.1360C>T</a>, <a href=" /projects/sviewer/?id=NM_000500.8&search=NM_000500.8:c.1360C>T&v=1:100&content=5 " target=" _blank ">NM_000500.8:c.1360C>T</a>, <a href=" /projects/sviewer/?id=NM_000500.7&search=NM_000500.7:c.1360C>T&v=1:100&content=5 " target=" _blank ">NM_000500.7:c.1360C>T</a>, <a href=" /projects/sviewer/?id=NM_001128590.4&search=NM_001128590.4:c.1270C>T&v=1:100&content=5 " target=" _blank ">NM_001128590.4:c.1270C>T</a>, <a href=" /projects/sviewer/?id=NM_001128590.3&search=NM_001128590.3:c.1270C>T&v=1:100&content=5 " target=" _blank ">NM_001128590.3:c.1270C>T</a>, <a href=" /projects/sviewer/?id=NM_001368143.2&search=NM_001368143.2:c.955C>T&v=1:100&content=5 " target=" _blank ">NM_001368143.2:c.955C>T</a>, <a href=" /projects/sviewer/?id=NM_001368143.1&search=NM_001368143.1:c.955C>T&v=1:100&content=5 " target=" _blank ">NM_001368143.1:c.955C>T</a>, <a href=" /projects/sviewer/?id=NM_001368144.2&search=NM_001368144.2:c.955C>T&v=1:100&content=5 " target=" _blank ">NM_001368144.2:c.955C>T</a>, <a href=" /projects/sviewer/?id=NM_001368144.1&search=NM_001368144.1:c.955C>T&v=1:100&content=5 " target=" _blank ">NM_001368144.1:c.955C>T</a>, <a href=" /projects/sviewer/?id=NG_008337.2&search=NG_008337.2:g.73369G>A&v=1:100&content=5 " target=" _blank ">NG_008337.2:g.73369G>A</a>, <a href=" /projects/sviewer/?id=NT_113891.3&search=NT_113891.3:g.3479328C>T&v=1:100&content=5 " target=" _blank ">NT_113891.3:g.3479328C>T</a>, <a href=" /projects/sviewer/?id=NT_113891.2&search=NT_113891.2:g.3479434C>T&v=1:100&content=5 " target=" _blank ">NT_113891.2:g.3479434C>T</a>, <a href=" /projects/sviewer/?id=NG_045215.1&search=NG_045215.1:g.3235C>T&v=1:100&content=5 " target=" _blank ">NG_045215.1:g.3235C>T</a>, <a href=" /projects/sviewer/?id=NT_167245.2&search=NT_167245.2:g.3282414C>T&v=1:100&content=5 " target=" _blank ">NT_167245.2:g.3282414C>T</a>, <a href=" /projects/sviewer/?id=NT_167245.1&search=NT_167245.1:g.3287999C>T&v=1:100&content=5 " target=" _blank ">NT_167245.1:g.3287999C>T</a>, <a href=" /projects/sviewer/?id=NT_167249.2&search=NT_167249.2:g.3342193C>T&v=1:100&content=5 " target=" _blank ">NT_167249.2:g.3342193C>T</a>, <a href=" /projects/sviewer/?id=NT_167249.1&search=NT_167249.1:g.3341491C>T&v=1:100&content=5 " target=" _blank ">NT_167249.1:g.3341491C>T</a>, <a href=" /projects/sviewer/?id=NT_167247.2&search=NT_167247.2:g.3383039C>T&v=1:100&content=5 " target=" _blank ">NT_167247.2:g.3383039C>T</a>, <a href=" /projects/sviewer/?id=NT_167247.1&search=NT_167247.1:g.3388624C>T&v=1:100&content=5 " target=" _blank ">NT_167247.1:g.3388624C>T</a>, <a href=" /projects/sviewer/?id=NP_000491.4&search=NP_000491.4:p.Pro454Ser&v=1:100&content=5 " target=" _blank ">NP_000491.4:p.Pro454Ser</a>, <a href=" /projects/sviewer/?id=NP_001122062.3&search=NP_001122062.3:p.Pro424Ser&v=1:100&content=5 " target=" _blank ">NP_001122062.3:p.Pro424Ser</a>, <a href=" /projects/sviewer/?id=NP_001355072.1&search=NP_001355072.1:p.Pro319Ser&v=1:100&content=5 " target=" _blank ">NP_001355072.1:p.Pro319Ser</a>, <a href=" /projects/sviewer/?id=NP_001355073.1&search=NP_001355073.1:p.Pro319Ser&v=1:100&content=5 " target=" _blank ">NP_001355073.1:p.Pro319Ser</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="UidCheckBox6467" class="ui-helper-hidden-accessible">Select item 6467</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="20" type="checkbox" id="UidCheckBox6467" value="6467" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/snp/6467" ref="ordinalpos=20&ncbi_uid=6467&link_uid=6467"> </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/rs6467">rs6467</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd><span class="highlight" style="background-color:">SNV</span></dd><dt>Alleles:</dt><dd><span>C>A,G,T</span><span class="for_snp_flanks" snp_info="rs6467:C/A/G/T:6:32039081: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>6:32039081
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(GRCh38)<br />6:32006858
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000006.12:32039080:C:A,NC_000006.12:32039080:C:G,NC_000006.12:32039080:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">CYP21A2 (<a href="/variation/view/?q=rs6467"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>intron_variant,5_prime_UTR_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>not-provided,benign,<span class="highlight" style="background-color:">pathogenic</span>,conflicting-interpretations-of-pathogenicity
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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=0.000598/33
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(<a id="alfa_link" href=" /snp/rs6467#frequency_tab ">ALFA</a>)<br />A=0.2/2
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(Korea1K)<br />C=0.25/11
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(Siberian)<br />C=0.280172/130
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(SGDP_PRJ)<br />C=0.325/260
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(HapMap)<br />C=0.344604/1009
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(KOREAN)<br />C=0.353529/1770
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(1000Genomes)<br />C=0.364135/96383
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(TOPMED)<br />C=0.370653/4817
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(GoESP)<br />C=0.402778/87
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(Qatari)<br />C=0.423221/226
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(MGP)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000006.12&search=NC_000006.12:g.32039081C>A&v=1:100&content=5 " target=" _blank ">NC_000006.12:g.32039081C>A</a>, <a href=" /projects/sviewer/?id=NC_000006.12&search=NC_000006.12:g.32039081C>G&v=1:100&content=5 " target=" _blank ">NC_000006.12:g.32039081C>G</a>, <a href=" /projects/sviewer/?id=NC_000006.12&search=NC_000006.12:g.32039081C>T&v=1:100&content=5 " target=" _blank ">NC_000006.12:g.32039081C>T</a>, <a href=" /projects/sviewer/?id=NC_000006.11&search=NC_000006.11:g.32006858C>A&v=1:100&content=5 " target=" _blank ">NC_000006.11:g.32006858C>A</a>, <a href=" /projects/sviewer/?id=NC_000006.11&search=NC_000006.11:g.32006858C>G&v=1:100&content=5 " target=" _blank ">NC_000006.11:g.32006858C>G</a>, <a href=" /projects/sviewer/?id=NC_000006.11&search=NC_000006.11:g.32006858C>T&v=1:100&content=5 " target=" _blank ">NC_000006.11:g.32006858C>T</a>, <a href=" /projects/sviewer/?id=NG_007941.3&search=NG_007941.3:g.5777C>A&v=1:100&content=5 " target=" _blank ">NG_007941.3:g.5777C>A</a>, <a href=" /projects/sviewer/?id=NG_007941.3&search=NG_007941.3:g.5777C>G&v=1:100&content=5 " target=" _blank ">NG_007941.3:g.5777C>G</a>, <a href=" /projects/sviewer/?id=NG_007941.3&search=NG_007941.3:g.5777C>T&v=1:100&content=5 " target=" _blank ">NG_007941.3:g.5777C>T</a>, <a href=" /projects/sviewer/?id=NM_001368143.2&search=NM_001368143.2:c.-126C>A&v=1:100&content=5 " target=" _blank ">NM_001368143.2:c.-126C>A</a>, <a href=" /projects/sviewer/?id=NM_001368143.2&search=NM_001368143.2:c.-126C>G&v=1:100&content=5 " target=" _blank ">NM_001368143.2:c.-126C>G</a>, <a href=" /projects/sviewer/?id=NM_001368143.2&search=NM_001368143.2:c.-126C>T&v=1:100&content=5 " target=" _blank ">NM_001368143.2:c.-126C>T</a>, <a href=" /projects/sviewer/?id=NM_001368143.1&search=NM_001368143.1:c.-126C>A&v=1:100&content=5 " target=" _blank ">NM_001368143.1:c.-126C>A</a>, <a href=" /projects/sviewer/?id=NM_001368143.1&search=NM_001368143.1:c.-126C>G&v=1:100&content=5 " target=" _blank ">NM_001368143.1:c.-126C>G</a>, <a href=" /projects/sviewer/?id=NM_001368143.1&search=NM_001368143.1:c.-126C>T&v=1:100&content=5 " target=" _blank ">NM_001368143.1:c.-126C>T</a>, <a href=" /projects/sviewer/?id=NM_001368144.2&search=NM_001368144.2:c.-126C>A&v=1:100&content=5 " target=" _blank ">NM_001368144.2:c.-126C>A</a>, <a href=" /projects/sviewer/?id=NM_001368144.2&search=NM_001368144.2:c.-126C>G&v=1:100&content=5 " target=" _blank ">NM_001368144.2:c.-126C>G</a>, <a href=" /projects/sviewer/?id=NM_001368144.2&search=NM_001368144.2:c.-126C>T&v=1:100&content=5 " target=" _blank ">NM_001368144.2:c.-126C>T</a>, <a href=" /projects/sviewer/?id=NM_001368144.1&search=NM_001368144.1:c.-126C>A&v=1:100&content=5 " target=" _blank ">NM_001368144.1:c.-126C>A</a>, <a href=" /projects/sviewer/?id=NM_001368144.1&search=NM_001368144.1:c.-126C>G&v=1:100&content=5 " target=" _blank ">NM_001368144.1:c.-126C>G</a>, <a href=" /projects/sviewer/?id=NM_001368144.1&search=NM_001368144.1:c.-126C>T&v=1:100&content=5 " target=" _blank ">NM_001368144.1:c.-126C>T</a>, <a href=" /projects/sviewer/?id=NG_045215.1&search=NG_045215.1:g.1310C>A&v=1:100&content=5 " target=" _blank ">NG_045215.1:g.1310C>A</a>, <a href=" /projects/sviewer/?id=NG_045215.1&search=NG_045215.1:g.1310C>G&v=1:100&content=5 " target=" _blank ">NG_045215.1:g.1310C>G</a>, <a href=" /projects/sviewer/?id=NG_045215.1&search=NG_045215.1:g.1310C>T&v=1:100&content=5 " target=" _blank ">NG_045215.1:g.1310C>T</a>, <a href=" /projects/sviewer/?id=NT_113891.3&search=NT_113891.3:g.3477403C>A&v=1:100&content=5 " target=" _blank ">NT_113891.3:g.3477403C>A</a>, <a href=" /projects/sviewer/?id=NT_113891.3&search=NT_113891.3:g.3477403C>G&v=1:100&content=5 " target=" _blank ">NT_113891.3:g.3477403C>G</a>, <a href=" /projects/sviewer/?id=NT_113891.3&search=NT_113891.3:g.3477403C>T&v=1:100&content=5 " target=" _blank ">NT_113891.3:g.3477403C>T</a>, <a href=" /projects/sviewer/?id=NT_113891.2&search=NT_113891.2:g.3477509C>A&v=1:100&content=5 " target=" _blank ">NT_113891.2:g.3477509C>A</a>, <a href=" /projects/sviewer/?id=NT_113891.2&search=NT_113891.2:g.3477509C>G&v=1:100&content=5 " target=" _blank ">NT_113891.2:g.3477509C>G</a>, <a href=" /projects/sviewer/?id=NT_113891.2&search=NT_113891.2:g.3477509C>T&v=1:100&content=5 " target=" _blank ">NT_113891.2:g.3477509C>T</a>, <a href=" /projects/sviewer/?id=NT_167245.2&search=NT_167245.2:g.3280489A>C&v=1:100&content=5 " target=" _blank ">NT_167245.2:g.3280489A>C</a>, <a href=" /projects/sviewer/?id=NT_167245.2&search=NT_167245.2:g.3280489A>G&v=1:100&content=5 " target=" _blank ">NT_167245.2:g.3280489A>G</a>, <a href=" /projects/sviewer/?id=NT_167245.2&search=NT_167245.2:g.3280489A>T&v=1:100&content=5 " target=" _blank ">NT_167245.2:g.3280489A>T</a>, <a href=" /projects/sviewer/?id=NT_167245.1&search=NT_167245.1:g.3286074A>C&v=1:100&content=5 " target=" _blank ">NT_167245.1:g.3286074A>C</a>, <a href=" /projects/sviewer/?id=NT_167245.1&search=NT_167245.1:g.3286074A>G&v=1:100&content=5 " target=" _blank ">NT_167245.1:g.3286074A>G</a>, <a href=" /projects/sviewer/?id=NT_167245.1&search=NT_167245.1:g.3286074A>T&v=1:100&content=5 " target=" _blank ">NT_167245.1:g.3286074A>T</a>, <a href=" /projects/sviewer/?id=NT_167249.2&search=NT_167249.2:g.3340268A>C&v=1:100&content=5 " target=" _blank ">NT_167249.2:g.3340268A>C</a>, <a href=" /projects/sviewer/?id=NT_167249.2&search=NT_167249.2:g.3340268A>G&v=1:100&content=5 " target=" _blank ">NT_167249.2:g.3340268A>G</a>, <a href=" /projects/sviewer/?id=NT_167249.2&search=NT_167249.2:g.3340268A>T&v=1:100&content=5 " target=" _blank ">NT_167249.2:g.3340268A>T</a>, <a href=" /projects/sviewer/?id=NT_167249.1&search=NT_167249.1:g.3339566A>C&v=1:100&content=5 " target=" _blank ">NT_167249.1:g.3339566A>C</a>, <a href=" /projects/sviewer/?id=NT_167249.1&search=NT_167249.1:g.3339566A>G&v=1:100&content=5 " target=" _blank ">NT_167249.1:g.3339566A>G</a>, <a href=" /projects/sviewer/?id=NT_167249.1&search=NT_167249.1:g.3339566A>T&v=1:100&content=5 " target=" _blank ">NT_167249.1:g.3339566A>T</a>, <a href=" /projects/sviewer/?id=NT_167247.2&search=NT_167247.2:g.3381114C>A&v=1:100&content=5 " target=" _blank ">NT_167247.2:g.3381114C>A</a>, <a href=" /projects/sviewer/?id=NT_167247.2&search=NT_167247.2:g.3381114C>G&v=1:100&content=5 " target=" _blank ">NT_167247.2:g.3381114C>G</a>, <a href=" /projects/sviewer/?id=NT_167247.2&search=NT_167247.2:g.3381114C>T&v=1:100&content=5 " target=" _blank ">NT_167247.2:g.3381114C>T</a>, <a href=" /projects/sviewer/?id=NT_167247.1&search=NT_167247.1:g.3386699C>A&v=1:100&content=5 " target=" _blank ">NT_167247.1:g.3386699C>A</a>, <a href=" /projects/sviewer/?id=NT_167247.1&search=NT_167247.1:g.3386699C>G&v=1:100&content=5 " target=" _blank ">NT_167247.1:g.3386699C>G</a>, <a href=" /projects/sviewer/?id=NT_167247.1&search=NT_167247.1:g.3386699C>T&v=1:100&content=5 " target=" _blank ">NT_167247.1:g.3386699C>T</a></span></div></dd>
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