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1152 lines
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226 KiB
XML
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<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
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<!-- logo -->
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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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</div>
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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="pmc">PMC</option><option value="gene">Gene</option><option value="books" class="last">Books</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search SNP" value="FMO3" 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=90966" 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:'FMO3',qk:'90966',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="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="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="pathogenic_snp">pathogenic</a></li></ul></li></ul><ul class="facet" data-filter_id="validation" id="_validation"><li class="filter_grp "><div class="clearfix"><h3>Validation Status</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="Validated_by_alfa">by-ALFA</a></li><li class="fil_val"><a href="#" data-value_id="Validated_by_cluster">by-cluster</a></li><li class="fil_val"><a href="#" data-value_id="Validated_by_frequency">by-frequency</a></li></ul></li></ul><ul class="facet" data-filter_id="Publication" id="_Publication" data-bm="yes"><li class="filter_grp "><div class="clearfix"><h3>Publication</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="snp pubmed_cited">PubMed Cited</a></li><li class="fil_val"><a href="#" data-value_id="snp pubmed">PubMed Linked</a></li></ul></li></ul><ul class="facet" data-filter_id="Function_Class" id="_Function_Class" data-bm="yes"><li class="filter_grp "><div class="clearfix"><h3>Function Class</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="inframe_deletion">inframe deletion</a></li><li class="fil_val"><a href="#" data-value_id="inframe_indel">inframe indel</a></li><li class="fil_val"><a href="#" data-value_id="inframe_insertion">inframe insertion</a></li><li class="fil_val"><a href="#" data-value_id="initiator_codon_variant">initiator codon variant</a></li><li class="fil_val"><a href="#" data-value_id="intron_snp">intron</a></li><li class="fil_val"><a href="#" data-value_id="missense_snp">missense</a></li><li class="fil_val"><a href="#" data-value_id="non_coding_transcript_variant">non coding transcript variant</a></li><li class="fil_val"><a href="#" data-value_id="coding_synonymous_snp">synonymous</a></li></ul></li></ul><ul class="facet" data-filter_id="SnpClass" id="_SnpClass"><li class="filter_grp "><div class="clearfix"><h3>Variation Class</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="del_var">del</a></li><li class="fil_val"><a href="#" data-value_id="delins_var">delins</a></li><li class="fil_val"><a href="#" data-value_id="ins_var">ins</a></li><li class="fil_val"><a href="#" data-value_id="mnp_var">mnv</a></li></ul></li></ul><ul class="facet" data-filter_id="Annotation" id="_Annotation"><li class="filter_grp "><div class="clearfix"><h3>Annotation</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="snp_somatic">somatic</a></li></ul></li></ul><ul class="facet" data-filter_id="GLOBALMAF" data-rs="yes" id="_GLOBALMAF"><li class="filter_grp"><div class="clearfix"><h3>Global MAF</h3><a href="#" data-value_id="" class="clear clear_hide">clear</a></div><ul><li class="facetrange"><a id="facet_rangeGLOBALMAF" href="#facet_range_divGLOBALMAF" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'">
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Custom range...</a></li><div id="facet_range_divGLOBALMAF" style="display:none;" class="facets_dialog" data-vre="^(1\.0?|0\.\d{1,4})(\s*)?$" data-vf=" 			function(v){ 			var maf = v.match(/^(1\.0?|0\.\d{1,4})(\s*)$/); 			return maf[1]; 			} 		"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Custom range</h4><div><label class="offscreen_noflow" for="facet_range_stGLOBALMAF">Start Value</label><input type="text" id="facet_range_stGLOBALMAF" value="" placeholder="" /><span>to</span><label class="offscreen_noflow" for="facet_range_endGLOBALMAF">End Value</label><input type="text" id="facet_range_endGLOBALMAF" value="" placeholder="" /></div><div class="of_hint">Example: 0.01 to 0.1</div><div class="actions clearfix"><button class="jig-ncbibutton primary-action btn_range_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'" id="facet_range_applyGLOBALMAF">Apply</button><button class="jig-ncbibutton secondary-action btn_range_clear" data-jigconfig="'color': 'ui-ncbibutton-gray'" id="facet_range_clearGLOBALMAF">Clear</button></div></div></ul></li></ul><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
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Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_ClinicalSNP" /><label for="fg_ClinicalSNP">Clinical Significance</label></li><li><input type="checkbox" id="fg_validation" /><label for="fg_validation">Validation Status</label></li><li><input type="checkbox" id="fg_Publication" /><label for="fg_Publication">Publication</label></li><li><input type="checkbox" id="fg_Function_Class" /><label for="fg_Function_Class">Function Class</label></li><li><input type="checkbox" id="fg_SnpClass" /><label for="fg_SnpClass">Variation Class</label></li><li><input type="checkbox" id="fg_Annotation" /><label for="fg_Annotation">Annotation</label></li><li><input type="checkbox" id="fg_GLOBALMAF" /><label for="fg_GLOBALMAF">Global MAF</label></li><li><input type="checkbox" id="fg_chr" /><label for="fg_chr">Chromosomes</label></li><li><input type="checkbox" id="fg_CHRPOS" /><label for="fg_CHRPOS">Chromosome Range</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.Snp.Snp_Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=" /><input name="EntrezSystem2.PEntrez.Snp.Snp_Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.Snp.Snp_Facets.BMFacets" sid="1" type="hidden" value="" /></div>
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</div>
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<div id="maincontent" class="col seven_col">
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<div class="content">
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<div class="results_settings"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="2" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="3" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="4" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Sorted by SNP_ID</a></li></ul><div id="display_settings_menu" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPresentation" sid="1" value="SnpSum" format="" id="SnpSum" checked="true" /><label for="SnpSum">Summary</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="1" value="5" id="ps5" /><label for="ps5">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="2" value="10" id="ps10" /><label for="ps10">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="3" value="20" id="ps20" checked="true" /><label for="ps20">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="4" value="50" id="ps50" /><label for="ps50">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="5" value="100" id="ps100" /><label for="ps100">100</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize" sid="6" value="200" id="ps200" /><label for="ps200">200</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort" sid="1" value="none" id="none" /><label for="none">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort" sid="2" value="SNP_ID" id="SNP_ID" checked="true" /><label for="SNP_ID">SNP_ID</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort" sid="3" value="CHRPOS" id="CHRPOS" /><label for="CHRPOS">Chromosome Base Position</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
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jQuery(document).ready( function () {
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jQuery("#send_to_menu input[type='radio']").click( function () {
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var selectedValue = jQuery(this).val().toLowerCase();
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var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
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if(selectedDiv.is(":hidden")){
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jQuery("#send_to_menu div.submenu:visible").slideUp();
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selectedDiv.slideDown();
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}
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});
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});
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jQuery("#sendto").bind("ncbipopperclose", function(){
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jQuery("#send_to_menu div.submenu:visible").css("display","none");
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jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
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});
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</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FFormat" sid="1"><option value="SnpSum" format="text" selected="selected">Summary</option><option value="XML" format="text">XML</option><option value="Tab" format="text">Tab</option></select></li><li><label for="file_sort">Sort by</label><select id="file_sort" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FSort" sid="1"><option value="">Default order</option><option value="SNP_ID" selected="selected">SNP_ID</option><option value="CHRPOS">Chromosome Base Position</option></select></li></ul><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FileFormat" sid="1" type="hidden" value="snpsum" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastPresentation" sid="1" type="hidden" value="snpsum" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Presentation" sid="1" type="hidden" value="snpsum" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Sort" sid="1" type="hidden" value="SNP_ID" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastSort" sid="1" type="hidden" value="SNP_ID" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FileSort" sid="1" type="hidden" value="SNP_ID" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.LastFormat" sid="1" type="hidden" value="" /></div></div>
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</div>
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<div class="title_and_pager">
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<div><h2>Search results</h2><h3 class="result_count left">Items: 1 to 20 of 13886</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="13886" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
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<div><!--
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- - - - - - - - begin Results - - - - - -
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--><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox909530" class="ui-helper-hidden-accessible">Select item 909530</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="1" type="checkbox" id="UidCheckBox909530" value="909530" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/snp/909530" ref="ordinalpos=1&ncbi_uid=909530&link_uid=909530"> </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/rs909530">rs909530</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>A,T</span><span class="for_snp_flanks" snp_info="rs909530:C/A/T:1:171114034: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>1:171114034
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(GRCh38)<br />1:171083174
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171114033:C:A,NC_000001.11:171114033:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs909530"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,missense_variant,synonymous_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.2492933/90836
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(<a id="alfa_link" href=" /snp/rs909530#frequency_tab ">ALFA</a>)<br />T=0.1714286/12
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(PRJEB36033)<br />T=0.2247191/120
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(MGP)<br />T=0.239232/922
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(ALSPAC)<br />T=0.2478425/919
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(TWINSUK)<br />T=0.2592593/56
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(Qatari)<br />T=0.2604922/363494
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(GnomAD_exomes)<br />T=0.2689076/160
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(Vietnamese)<br />T=0.2715431/271
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(GoNL)<br />T=0.2801339/1255
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(Estonian)<br />T=0.2828947/86
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(FINRISK)<br />T=0.289134/34810
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(ExAC)<br />T=0.3/12
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(GENOME_DK)<br />T=0.3074735/3999
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(GoESP)<br />T=0.3139658/46774
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(GnomAD_genomes)<br />T=0.3195777/666
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(HGDP_Stanford)<br />T=0.321852/85191
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(TOPMED)<br />T=0.3336661/1671
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(1000Genomes)<br />T=0.3363523/2154
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(1000Genomes_30X)<br />T=0.3416667/205
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(NorthernSweden)<br />T=0.3483146/124
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(PharmGKB)<br />T=0.3557082/673
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(HapMap)<br />T=0.3751728/2714
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(Korea4K)<br />C=0.375817/115
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(SGDP_PRJ)<br />T=0.3805748/29952
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(PAGE_STUDY)<br />T=0.3815502/699
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(Korea1K)<br />T=0.3860068/1131
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(KOREAN)<br />T=0.3888544/30109
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(TOMMO)<br />T=0.4126582/326
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(PRJEB37584)<br />C=0.4166667/10
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(Siberian)<br />T=0.4265176/267
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(Chileans)<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.171114034C>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114034C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171114034C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114034C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083174C>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083174C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083174C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083174C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28131C>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28131C>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28131C>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28131C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28157C>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28157C>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28157C>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28157C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.855C>A&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.855C>A</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.855C>T&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.855C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.855C>A&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.855C>A</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.855C>T&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.855C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.855C>A&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.855C>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.855C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.855C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.855C>A&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.855C>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.855C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.855C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.795C>A&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.795C>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.795C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.795C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.795C>A&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.795C>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.795C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.795C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.666C>A&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.666C>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.666C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.666C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.666C>A&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.666C>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.666C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.666C>T</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.795C>A&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.795C>A</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.795C>T&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.795C>T</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Asn285Lys&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Asn285Lys</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Asn285Lys&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Asn285Lys</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Asn265Lys&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Asn265Lys</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Asn222Lys&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Asn222Lys</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Asn265Lys&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Asn265Lys</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=909530"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox909531" class="ui-helper-hidden-accessible">Select item 909531</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="2" type="checkbox" id="UidCheckBox909531" value="909531" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/snp/909531" ref="ordinalpos=2&ncbi_uid=909531&link_uid=909531"> </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/rs909531">rs909531</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>C</span><span class="for_snp_flanks" snp_info="rs909531:T/C:1:171114397: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>1:171114397
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(GRCh38)<br />1:171083537
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171114396:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs909531"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>intron_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">C=0.1994056/13150
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(<a id="alfa_link" href=" /snp/rs909531#frequency_tab ">ALFA</a>)<br />C=0.1074766/23
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(Vietnamese)<br />C=0.1179775/63
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(MGP)<br />C=0.1282051/10
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(PRJEB36033)<br />C=0.1296296/28
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(Qatari)<br />C=0.1439539/300
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(HGDP_Stanford)<br />C=0.1632096/299
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(Korea1K)<br />C=0.1668942/489
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(KOREAN)<br />C=0.1714128/1240
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(Korea4K)<br />C=0.1932907/968
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(1000Genomes)<br />C=0.1946785/236349
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(GnomAD_exomes)<br />C=0.1948625/751
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(ALSPAC)<br />C=0.1963323/728
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(TWINSUK)<br />C=0.196655/15227
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(TOMMO)<br />C=0.1976889/1266
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(1000Genomes_30X)<br />C=0.2088446/17464
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(ExAC)<br />C=0.2174349/217
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(GoNL)<br />C=0.228526/431
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(HapMap)<br />C=0.2298425/60837
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(TOPMED)<br />C=0.2324836/34654
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(GnomAD_genomes)<br />C=0.2334821/1046
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(Estonian)<br />C=0.2407522/3124
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(GoESP)<br />C=0.25/10
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(GENOME_DK)<br />C=0.2733333/164
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(NorthernSweden)<br />T=0.3869048/65
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(SGDP_PRJ)<br />T=0.4/8
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(Siberian)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171114397T>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114397T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083537T>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083537T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28494T>C&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28494T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28520T>C&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28520T>C</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=909531"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1736557" class="ui-helper-hidden-accessible">Select item 1736557</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="3" type="checkbox" id="UidCheckBox1736557" value="1736557" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/snp/1736557" ref="ordinalpos=3&ncbi_uid=1736557&link_uid=1736557"> </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/rs1736557">rs1736557</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A,C</span><span class="for_snp_flanks" snp_info="rs1736557:G/A/C:1:171110939: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>1:171110939
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(GRCh38)<br />1:171080080
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171110938:G:A,NC_000001.11:171110938:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs1736557"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,missense_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.073185/29401
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(<a id="alfa_link" href=" /snp/rs1736557#frequency_tab ">ALFA</a>)<br />A=0.025/1
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(GENOME_DK)<br />A=0.032258/2
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(PRJEB36033)<br />A=0.052632/16
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(FINRISK)<br />A=0.055804/250
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(Estonian)<br />A=0.065503/9773
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(GnomAD_genomes)<br />A=0.065854/17431
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(TOPMED)<br />A=0.067134/67
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(GoNL)<br />A=0.070288/44
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(Chileans)<br />A=0.071354/275
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(ALSPAC)<br />A=0.074973/278
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(TWINSUK)<br />A=0.074992/5902
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(PAGE_STUDY)<br />A=0.076779/41
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(MGP)<br />A=0.080517/9769
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(ExAC)<br />A=0.084038/159
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(HapMap)<br />A=0.09213/590
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(1000Genomes_30X)<br />A=0.09419/107
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(Daghestan)<br />A=0.097644/489
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(1000Genomes)<br />A=0.101667/61
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(NorthernSweden)<br />A=0.112284/234
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(HGDP_Stanford)<br />A=0.115741/25
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(Qatari)<br />A=0.115819/41
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(PharmGKB)<br />A=0.1552/12019
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(TOMMO)<br />A=0.183959/539
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(KOREAN)<br />A=0.191594/351
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(Korea1K)<br />A=0.19436/1406
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(Korea4K)<br />A=0.222403/137
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(Vietnamese)<br />G=0.375/3
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(Siberian)<br />G=0.48913/45
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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.171110939G>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171110939G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171110939G>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171110939G>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171080080G>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171080080G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171080080G>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171080080G>C</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.25036G>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.25036G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.25036G>C&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.25036G>C</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.25063G>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.25063G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.25063G>C&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.25063G>C</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.769G>A&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.769G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.769G>C&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.769G>C</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.769G>A&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.769G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.769G>C&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.769G>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.769G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.769G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.769G>C&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.769G>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.769G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.769G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.769G>C&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.769G>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.709G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.709G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.709G>C&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.709G>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.709G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.709G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.709G>C&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.709G>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.580G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.580G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.580G>C&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.580G>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.580G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.580G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.580G>C&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.580G>C</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.709G>A&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.709G>A</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.709G>C&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.709G>C</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Val257Met&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Val257Met</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Val257Leu&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Val257Leu</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Val257Met&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Val257Met</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Val257Leu&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Val257Leu</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Val237Met&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Val237Met</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Val237Leu&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Val237Leu</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Val194Met&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Val194Met</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Val194Leu&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Val194Leu</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Val237Met&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Val237Met</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Val237Leu&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Val237Leu</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=1736557"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1800822" class="ui-helper-hidden-accessible">Select item 1800822</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="4" type="checkbox" id="UidCheckBox1800822" value="1800822" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/snp/1800822" ref="ordinalpos=4&ncbi_uid=1800822&link_uid=1800822"> </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/rs1800822">rs1800822</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>G,T</span><span class="for_snp_flanks" snp_info="rs1800822:C/G/T:1:171107794: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>1:171107794
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(GRCh38)<br />1:171076935
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171107793:C:G,NC_000001.11:171107793:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs1800822"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,synonymous_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>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=0.0663757/23585
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(<a id="alfa_link" href=" /snp/rs1800822#frequency_tab ">ALFA</a>)<br />T=0.0394737/12
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(FINRISK)<br />T=0.0474831/183
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(ALSPAC)<br />T=0.0482143/216
|
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(Estonian)<br />T=0.05/2
|
|
(GENOME_DK)<br />T=0.0544768/202
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|
(TWINSUK)<br />T=0.0551102/55
|
|
(GoNL)<br />T=0.0646625/841
|
|
(GoESP)<br />T=0.0655431/35
|
|
(MGP)<br />T=0.0666667/40
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(NorthernSweden)<br />T=0.073933/103588
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(GnomAD_exomes)<br />T=0.0842109/12555
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(GnomAD_genomes)<br />T=0.0870337/98
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(Daghestan)<br />T=0.0945408/25024
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(TOPMED)<br />T=0.1035941/196
|
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(HapMap)<br />T=0.1077717/13074
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(ExAC)<br />T=0.1342593/29
|
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(Qatari)<br />T=0.1380883/10867
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(PAGE_STUDY)<br />T=0.1399126/896
|
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(1000Genomes_30X)<br />T=0.1405229/86
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(Vietnamese)<br />T=0.1415735/709
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(1000Genomes)<br />T=0.1536313/55
|
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(PharmGKB)<br />T=0.2019628/15640
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(TOMMO)<br />T=0.2235131/1616
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(Korea4K)<br />T=0.2342896/686
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(KOREAN)<br />T=0.2401747/440
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(Korea1K)<br />T=0.2697201/212
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(PRJEB37584)<br />C=0.4047619/68
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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_000001.11&search=NC_000001.11:g.171107794C>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171107794C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171107794C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171107794C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171076935C>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171076935C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171076935C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171076935C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.21891C>G&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.21891C>G</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.21891C>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.21891C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.21918C>G&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.21918C>G</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.21918C>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.21918C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.441C>G&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.441C>G</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.441C>T&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.441C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.441C>G&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.441C>G</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.441C>T&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.441C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.441C>G&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.441C>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.441C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.441C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.441C>G&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.441C>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.441C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.441C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.381C>G&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.381C>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.381C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.381C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.381C>G&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.381C>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.381C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.381C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.252C>G&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.252C>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.252C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.252C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.252C>G&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.252C>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.252C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.252C>T</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.192C>G&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.192C>G</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.192C>T&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.192C>T</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.381C>G&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.381C>G</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.381C>T&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.381C>T</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=1800822"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1920149" class="ui-helper-hidden-accessible">Select item 1920149</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="5" type="checkbox" id="UidCheckBox1920149" value="1920149" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/snp/1920149" ref="ordinalpos=5&ncbi_uid=1920149&link_uid=1920149"> </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/rs1920149">rs1920149</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A</span><span class="for_snp_flanks" snp_info="rs1920149:G/A:1:171108057: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>1:171108057
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(GRCh38)<br />1:171077198
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171108056:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs1920149"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>intron_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.4762295/75490
|
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(<a id="alfa_link" href=" /snp/rs1920149#frequency_tab ">ALFA</a>)<br />A=0.1535581/82
|
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(MGP)<br />G=0.3104265/131
|
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(SGDP_PRJ)<br />A=0.3110749/191
|
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(Vietnamese)<br />G=0.375/12
|
|
(Siberian)<br />A=0.4109785/31827
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(TOMMO)<br />A=0.418833/3029
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(Korea4K)<br />A=0.4235808/776
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(Korea1K)<br />A=0.4245734/1244
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(KOREAN)<br />G=0.4247881/802
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(HapMap)<br />A=0.45/18
|
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(GENOME_DK)<br />G=0.4527145/119829
|
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(TOPMED)<br />G=0.4535599/5899
|
|
(GoESP)<br />A=0.4539474/138
|
|
(FINRISK)<br />G=0.4565896/2924
|
|
(1000Genomes_30X)<br />G=0.460995/68644
|
|
(GnomAD_genomes)<br />G=0.4614617/2311
|
|
(1000Genomes)<br />A=0.4627832/1716
|
|
(TWINSUK)<br />A=0.4654904/1794
|
|
(ALSPAC)<br />G=0.4666667/280
|
|
(NorthernSweden)<br />G=0.4768519/103
|
|
(Qatari)<br />A=0.480695/672026
|
|
(GnomAD_exomes)<br />G=0.4814732/2157
|
|
(Estonian)<br />G=0.4849699/484
|
|
(GoNL)<br />G=0.4951497/60027
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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_000001.11&search=NC_000001.11:g.171108057G>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171108057G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171077198G>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171077198G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.22154G>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.22154G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.22181G>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.22181G>A</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.455G>A&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.455G>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=1920149"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2066530" class="ui-helper-hidden-accessible">Select item 2066530</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="6" type="checkbox" id="UidCheckBox2066530" value="2066530" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/snp/2066530" ref="ordinalpos=6&ncbi_uid=2066530&link_uid=2066530"> </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/rs2066530">rs2066530</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>C,G</span><span class="for_snp_flanks" snp_info="rs2066530:T/C/G:1:171114009: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>1:171114009
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(GRCh38)<br />1:171083149
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171114008:T:C,NC_000001.11:171114008:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs2066530"><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>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">C=0.0028484/985
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(<a id="alfa_link" href=" /snp/rs2066530#frequency_tab ">ALFA</a>)<br />C=0./0
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(ALSPAC)<br />C=0.0002697/1
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(TWINSUK)<br />C=0.0012754/1756
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(GnomAD_exomes)<br />C=0.0045651/536
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(ExAC)<br />C=0.0092593/2
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(Qatari)<br />C=0.0134291/86
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(1000Genomes_30X)<br />C=0.013778/69
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(1000Genomes)<br />C=0.0140449/5
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(PharmGKB)<br />C=0.0145549/2166
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(GnomAD_genomes)<br />C=0.0157354/4165
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(TOPMED)<br />C=0.0161464/210
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(GoESP)<br />C=0.0227687/25
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(HapMap)<br />C=0.0234943/1849
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(PAGE_STUDY)<br />T=0.5/3
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(SGDP_PRJ)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171114009T>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114009T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171114009T>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114009T>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083149T>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083149T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083149T>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083149T>G</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28106T>C&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28106T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28106T>G&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28106T>G</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28132T>C&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28132T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28132T>G&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28132T>G</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.830T>C&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.830T>C</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.830T>G&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.830T>G</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.830T>C&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.830T>C</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.830T>G&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.830T>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.830T>C&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.830T>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.830T>G&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.830T>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.830T>C&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.830T>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.830T>G&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.830T>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.770T>C&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.770T>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.770T>G&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.770T>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.770T>C&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.770T>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.770T>G&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.770T>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.641T>C&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.641T>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.641T>G&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.641T>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.641T>C&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.641T>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.641T>G&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.641T>G</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.770T>C&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.770T>C</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.770T>G&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.770T>G</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Val277Ala&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Val277Ala</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Val277Gly&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Val277Gly</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Val277Ala&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Val277Ala</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Val277Gly&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Val277Gly</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Val257Ala&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Val257Ala</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Val257Gly&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Val257Gly</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Val214Ala&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Val214Ala</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Val214Gly&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Val214Gly</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Val257Ala&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Val257Ala</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Val257Gly&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Val257Gly</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=2066530"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2066532" class="ui-helper-hidden-accessible">Select item 2066532</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="7" type="checkbox" id="UidCheckBox2066532" value="2066532" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/snp/2066532" ref="ordinalpos=7&ncbi_uid=2066532&link_uid=2066532"> </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/rs2066532">rs2066532</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A,C</span><span class="for_snp_flanks" snp_info="rs2066532:G/A/C:1:171114263: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>1:171114263
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(GRCh38)<br />1:171083403
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171114262:G:A,NC_000001.11:171114262:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs2066532"><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
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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=0.000653/72
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(<a id="alfa_link" href=" /snp/rs2066532#frequency_tab ">ALFA</a>)<br />C=0.001393/168
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(ExAC)<br />C=0.003049/1
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(HapMap)<br />C=0.004008/598
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(GnomAD_genomes)<br />C=0.004273/1131
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(TOPMED)<br />C=0.004528/29
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(1000Genomes_30X)<br />C=0.00463/1
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(Qatari)<br />C=0.004792/24
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(1000Genomes)<br />C=0.005682/2
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(PharmGKB)<br />C=0.005767/75
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(GoESP)<br />C=0.006328/498
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(PAGE_STUDY)<br />G=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_000001.11&search=NC_000001.11:g.171114263G>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114263G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171114263G>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114263G>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083403G>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083403G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083403G>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083403G>C</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28360G>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28360G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28360G>C&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28360G>C</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28386G>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28386G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28386G>C&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28386G>C</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.1084G>C&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.1084G>C</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.1084G>C&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.1084G>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.1084G>C&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.1084G>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.1084G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.1084G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.1084G>C&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.1084G>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.1024G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.1024G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.1024G>C&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.1024G>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.1024G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.1024G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.1024G>C&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.1024G>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.895G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.895G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.895G>C&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.895G>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.895G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.895G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.895G>C&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.895G>C</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.1024G>A&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.1024G>A</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.1024G>C&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.1024G>C</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Glu362Lys&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Glu362Lys</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Glu362Gln&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Glu362Gln</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Glu362Lys&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Glu362Lys</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Glu362Gln&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Glu362Gln</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Glu342Lys&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Glu342Lys</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Glu342Gln&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Glu342Gln</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Glu299Lys&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Glu299Lys</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Glu299Gln&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Glu299Gln</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Glu342Lys&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Glu342Lys</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Glu342Gln&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Glu342Gln</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="UidCheckBox2066534" class="ui-helper-hidden-accessible">Select item 2066534</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="8" type="checkbox" id="UidCheckBox2066534" value="2066534" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/snp/2066534" ref="ordinalpos=8&ncbi_uid=2066534&link_uid=2066534"> </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/rs2066534">rs2066534</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>A,G,T</span><span class="for_snp_flanks" snp_info="rs2066534:C/A/G/T:1:171108231: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>1:171108231
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(GRCh38)<br />1:171077372
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171108230:C:A,NC_000001.11:171108230:C:G,NC_000001.11:171108230:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs2066534"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>intron_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>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">G=0.170122/4645
|
|
(<a id="alfa_link" href=" /snp/rs2066534#frequency_tab ">ALFA</a>)<br />G=0.011364/7
|
|
(Vietnamese)<br />G=0.01228/951
|
|
(TOMMO)<br />G=0.021288/39
|
|
(Korea1K)<br />G=0.0235/170
|
|
(Korea4K)<br />G=0.024573/72
|
|
(KOREAN)<br />G=0.145714/51
|
|
(PharmGKB)<br />G=0.15/6
|
|
(GENOME_DK)<br />G=0.152439/50
|
|
(HapMap)<br />G=0.165563/50
|
|
(FINRISK)<br />G=0.191667/115
|
|
(NorthernSweden)<br />G=0.196629/105
|
|
(MGP)<br />G=0.198882/996
|
|
(1000Genomes)<br />G=0.201593/1291
|
|
(1000Genomes_30X)<br />G=0.211704/785
|
|
(TWINSUK)<br />G=0.218867/57932
|
|
(TOPMED)<br />G=0.221847/855
|
|
(ALSPAC)<br />G=0.231481/50
|
|
(Qatari)<br />G=0.2332/3033
|
|
(GoESP)<br />G=0.236607/1060
|
|
(Estonian)<br />G=0.238477/238
|
|
(GoNL)<br />C=0.424051/67
|
|
(SGDP_PRJ)<br />C=0.5/6
|
|
(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_000001.11&search=NC_000001.11:g.171108231C>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171108231C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171108231C>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171108231C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171108231C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171108231C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171077372C>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171077372C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171077372C>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171077372C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171077372C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171077372C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.22328C>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.22328C>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.22328C>G&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.22328C>G</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.22328C>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.22328C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.22355C>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.22355C>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.22355C>G&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.22355C>G</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.22355C>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.22355C>T</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.629C>A&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.629C>A</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.629C>G&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.629C>G</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.629C>T&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.629C>T</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=2066534"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2066536" class="ui-helper-hidden-accessible">Select item 2066536</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="9" type="checkbox" id="UidCheckBox2066536" value="2066536" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/snp/2066536" ref="ordinalpos=9&ncbi_uid=2066536&link_uid=2066536"> </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/rs2066536">rs2066536</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>T</span><span class="for_snp_flanks" snp_info="rs2066536:C/T:1:171114085: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>1:171114085
|
|
(GRCh38)<br />1:171083225
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171114084:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs2066536"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>coding_sequence_variant,synonymous_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.0000442/11
|
|
(<a id="alfa_link" href=" /snp/rs2066536#frequency_tab ">ALFA</a>)<br />T=0.0000314/44
|
|
(GnomAD_exomes)<br />T=0.0000992/12
|
|
(ExAC)<br />T=0.0001511/40
|
|
(TOPMED)<br />T=0.0001538/2
|
|
(GoESP)<br />T=0.0002882/43
|
|
(GnomAD_genomes)<br />T=0.008399/661
|
|
(PAGE_STUDY)<br />C=0.3333333/2
|
|
(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.171114085C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114085C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083225C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083225C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28182C>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28182C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28208C>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28208C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.906C>T&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.906C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.906C>T&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.906C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.906C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.906C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.906C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.906C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.846C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.846C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.846C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.846C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.717C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.717C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.717C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.717C>T</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.846C>T&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.846C>T</a></span></div></dd>
|
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"><a href="/sites/entrez?Db=pubmed&DbFrom=snp&Cmd=Link&LinkName=snp_pubmed_cited&LinkReadableName=Pubmed%20(SNP%20Cited)&IdsFromResult=2066536"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2066537" class="ui-helper-hidden-accessible">Select item 2066537</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="10" type="checkbox" id="UidCheckBox2066537" value="2066537" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/snp/2066537" ref="ordinalpos=10&ncbi_uid=2066537&link_uid=2066537"> </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/rs2066537">rs2066537</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>A,T</span><span class="for_snp_flanks" snp_info="rs2066537:C/A/T:1:171104004: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>1:171104004
|
|
(GRCh38)<br />1:171073145
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171104003:C:A,NC_000001.11:171104003:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs2066537"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>intron_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.0023212/61
|
|
(<a id="alfa_link" href=" /snp/rs2066537#frequency_tab ">ALFA</a>)<br />T=0.0000258/2
|
|
(TOMMO)<br />A=0.0004296/554
|
|
(GnomAD_exomes)<br />A=0.0012043/139
|
|
(ExAC)<br />A=0.0035942/18
|
|
(1000Genomes)<br />A=0.0036137/47
|
|
(GoESP)<br />A=0.0039038/25
|
|
(1000Genomes_30X)<br />A=0.0039664/592
|
|
(GnomAD_genomes)<br />A=0.0046296/1
|
|
(Qatari)<br />A=0.0048018/1271
|
|
(TOPMED)<br />C=0.5/5
|
|
(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.171104004C>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171104004C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171104004C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171104004C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171073145C>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171073145C>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171073145C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171073145C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.18101C>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.18101C>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.18101C>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.18101C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.18128C>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.18128C>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.18128C>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.18128C>T</a></span></div></dd>
|
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2266780" class="ui-helper-hidden-accessible">Select item 2266780</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="11" type="checkbox" id="UidCheckBox2266780" value="2266780" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/snp/2266780" ref="ordinalpos=11&ncbi_uid=2266780&link_uid=2266780"> </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/rs2266780">rs2266780</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>A>G</span><span class="for_snp_flanks" snp_info="rs2266780:A/G:1:171114102:snv:1"><a class="anchor_show_flank_toggle">
|
|
[Show Flanks]
|
|
</a></span></dd><dt>Chromosome: </dt><dd>1:171114102
|
|
(GRCh38)<br />1:171083242
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171114101:A:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs2266780"><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>pathogenic,likely-pathogenic,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">G=0.1704672/59536
|
|
(<a id="alfa_link" href=" /snp/rs2266780#frequency_tab ">ALFA</a>)<br />G=0.0416667/9
|
|
(Qatari)<br />G=0.0792254/90
|
|
(Daghestan)<br />G=0.0814696/51
|
|
(Chileans)<br />G=0.0865084/554
|
|
(1000Genomes_30X)<br />G=0.0890983/6996
|
|
(PAGE_STUDY)<br />G=0.0914537/458
|
|
(1000Genomes)<br />G=0.10047/171
|
|
(HapMap)<br />G=0.1020408/10
|
|
(PRJEB36033)<br />G=0.1239525/32809
|
|
(TOPMED)<br />G=0.1389686/20728
|
|
(GnomAD_genomes)<br />G=0.1468927/52
|
|
(PharmGKB)<br />G=0.1475954/89
|
|
(Vietnamese)<br />G=0.1529342/18524
|
|
(ExAC)<br />G=0.1573034/84
|
|
(MGP)<br />G=0.1592105/121
|
|
(PRJEB37584)<br />G=0.1626638/298
|
|
(Korea1K)<br />G=0.1672355/490
|
|
(KOREAN)<br />G=0.171551/1241
|
|
(Korea4K)<br />G=0.1806447/253020
|
|
(GnomAD_exomes)<br />G=0.1925272/742
|
|
(ALSPAC)<br />G=0.1947141/722
|
|
(TWINSUK)<br />G=0.1967431/15235
|
|
(TOMMO)<br />G=0.2164329/216
|
|
(GoNL)<br />G=0.2325893/1042
|
|
(Estonian)<br />G=0.2434211/74
|
|
(FINRISK)<br />G=0.25/10
|
|
(GENOME_DK)<br />G=0.2733333/164
|
|
(NorthernSweden)<br />A=0.4/8
|
|
(Siberian)<br />A=0.4310345/50
|
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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.171114102A>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114102A>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083242A>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083242A>G</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28199A>G&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28199A>G</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28225A>G&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28225A>G</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.923A>G&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.923A>G</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.923A>G&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.923A>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.923A>G&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.923A>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.923A>G&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.923A>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.863A>G&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.863A>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.863A>G&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.863A>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.734A>G&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.734A>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.734A>G&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.734A>G</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.863A>G&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.863A>G</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Glu308Gly&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Glu308Gly</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Glu308Gly&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Glu308Gly</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Glu288Gly&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Glu288Gly</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Glu245Gly&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Glu245Gly</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Glu288Gly&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Glu288Gly</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=2266780"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox2266782" class="ui-helper-hidden-accessible">Select item 2266782</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="12" type="checkbox" id="UidCheckBox2266782" value="2266782" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/snp/2266782" ref="ordinalpos=12&ncbi_uid=2266782&link_uid=2266782"> </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/rs2266782">rs2266782</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A</span><span class="for_snp_flanks" snp_info="rs2266782:G/A:1:171107825: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>1:171107825
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(GRCh38)<br />1:171076966
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171107824:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs2266782"><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>pathogenic,likely-pathogenic,benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.4004948/157819
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(<a id="alfa_link" href=" /snp/rs2266782#frequency_tab ">ALFA</a>)<br />A=0.1721311/105
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(Vietnamese)<br />A=0.1834061/336
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(Korea1K)<br />A=0.1911263/560
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(KOREAN)<br />A=0.1948285/1409
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(Korea4K)<br />A=0.2090209/16187
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(TOMMO)<br />A=0.3008637/627
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(HGDP_Stanford)<br />A=0.3101852/67
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(Qatari)<br />A=0.3240223/116
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(PharmGKB)<br />A=0.3333333/24
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(PRJEB36033)<br />A=0.3478435/1742
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(1000Genomes)<br />A=0.3493129/2237
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(1000Genomes_30X)<br />A=0.3501873/187
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(MGP)<br />G=0.3571429/10
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(Siberian)<br />A=0.3714867/29236
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(PAGE_STUDY)<br />A=0.3814815/721
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(HapMap)<br />G=0.3823529/104
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(SGDP_PRJ)<br />A=0.3829668/46460
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(ExAC)<br />A=0.4/16
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(GENOME_DK)<br />A=0.4000416/105887
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(TOPMED)<br />A=0.4021235/563330
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(GnomAD_exomes)<br />A=0.407767/1512
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(TWINSUK)<br />A=0.4080967/60786
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(GnomAD_genomes)<br />A=0.409331/465
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(Daghestan)<br />A=0.4144737/126
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(FINRISK)<br />A=0.4174883/1609
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(ALSPAC)<br />A=0.4589178/458
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(GoNL)<br />A=0.4666667/280
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(NorthernSweden)<br />A=0.4698661/2105
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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.171107825G>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171107825G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171076966G>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171076966G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.21922G>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.21922G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.21949G>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.21949G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.472G>A&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.472G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.472G>A&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.472G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.472G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.472G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.472G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.472G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.412G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.412G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.412G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.412G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.283G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.283G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.283G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.283G>A</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.223G>A&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.223G>A</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.412G>A&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.412G>A</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Glu158Lys&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Glu158Lys</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Glu158Lys&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Glu158Lys</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Glu138Lys&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Glu138Lys</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Glu95Lys&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Glu95Lys</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Glu138Lys&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Glu138Lys</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=2266782"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox3832024" class="ui-helper-hidden-accessible">Select item 3832024</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="13" type="checkbox" id="UidCheckBox3832024" value="3832024" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/snp/3832024" ref="ordinalpos=13&ncbi_uid=3832024&link_uid=3832024"> </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/rs3832024">rs3832024</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>DELINS</dd><dt>Alleles:</dt><dd><span>TG>-</span><span class="for_snp_flanks" snp_info="rs3832024:TG/-:1:171108183:delins:4"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>1:171108185
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(GRCh38)<br />1:171077326
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171108182:TGTG:TG</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs3832024"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>stop_gained,coding_sequence_variant,inframe_indel
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>pathogenic
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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">TGTG=0.0000712/1
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(<a id="alfa_link" href=" /snp/rs3832024#frequency_tab ">ALFA</a>)<br />-=0.0000735/103
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(GnomAD_exomes)<br />-=0.0000871/13
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(GnomAD_genomes)<br />-=0.0001814/22
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(ExAC)<br />-=0.0001889/50
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(TOPMED)<br />-=0.0005459/1
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(Korea1K)<br />-=0.0008294/6
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(Korea4K)<br />-=0.0017432/135
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(TOMMO)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171108183TG[1]&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171108183TG[1]</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171077324TG[1]&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171077324TG[1]</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.22280TG[1]&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.22280TG[1]</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.22307TG[1]&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.22307TG[1]</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.591_592del&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.591_592del</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.591_592del&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.591_592del</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.591_592del&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.591_592del</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.591_592del&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.591_592del</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.531_532del&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.531_532del</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.531_532del&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.531_532del</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.402_403del&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.402_403del</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.402_403del&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.402_403del</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.581TG[1]&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.581TG[1]</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.531_532del&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.531_532del</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Cys197_Asp198delinsTer&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Cys197_Asp198delinsTer</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Cys197_Asp198delinsTer&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Cys197_Asp198delinsTer</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Cys177_Asp178delinsTer&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Cys177_Asp178delinsTer</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Cys134_Asp135delinsTer&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Cys134_Asp135delinsTer</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Cys177_Asp178delinsTer&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Cys177_Asp178delinsTer</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="UidCheckBox11578281" class="ui-helper-hidden-accessible">Select item 11578281</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="14" type="checkbox" id="UidCheckBox11578281" value="11578281" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/snp/11578281" ref="ordinalpos=14&ncbi_uid=11578281&link_uid=11578281"> </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/rs11578281">rs11578281</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A,T</span><span class="for_snp_flanks" snp_info="rs11578281:G/A/T:1:171090963: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>1:171090963
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(GRCh38)<br />1:171060104
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171090962:G:A,NC_000001.11:171090962:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs11578281"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>5_prime_UTR_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>uncertain-significance
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.010815/2723
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(<a id="alfa_link" href=" /snp/rs11578281#frequency_tab ">ALFA</a>)<br />A=0.000342/1
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(KOREAN)<br />A=0.000415/3
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(Korea4K)<br />A=0.002596/13
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(1000Genomes)<br />A=0.002967/19
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(1000Genomes_30X)<br />A=0.00463/1
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(Qatari)<br />A=0.00558/25
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(Estonian)<br />A=0.008403/2
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(GnomAD_exomes)<br />A=0.009868/6
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(HapMap)<br />A=0.011022/11
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(GoNL)<br />A=0.014271/55
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(ALSPAC)<br />A=0.016667/10
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(NorthernSweden)<br />A=0.01699/63
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(TWINSUK)<br />G=0.5/3
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(SGDP_PRJ)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171090963G>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171090963G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171090963G>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171090963G>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171060104G>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171060104G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171060104G>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171060104G>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.5060G>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.5060G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.5060G>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.5060G>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.5087G>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.5087G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.5087G>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.5087G>T</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.-8G>A&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.-8G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.-8G>T&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.-8G>T</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.-8G>A&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.-8G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.-8G>T&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.-8G>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.-25G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.-25G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.-25G>T&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.-25G>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.-25G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.-25G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.-25G>T&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.-25G>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.-195G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.-195G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.-195G>T&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.-195G>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.-195G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.-195G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.-195G>T&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.-195G>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.-25G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.-25G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.-25G>T&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.-25G>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.-25G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.-25G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.-25G>T&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.-25G>T</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox12072582" class="ui-helper-hidden-accessible">Select item 12072582</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="15" type="checkbox" id="UidCheckBox12072582" value="12072582" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/snp/12072582" ref="ordinalpos=15&ncbi_uid=12072582&link_uid=12072582"> </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/rs12072582">rs12072582</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>C,T</span><span class="for_snp_flanks" snp_info="rs12072582:G/C/T:1:171107747: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>1:171107747
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(GRCh38)<br />1:171076888
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171107746:G:C,NC_000001.11:171107746:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs12072582"><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
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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=0.001723/190
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(<a id="alfa_link" href=" /snp/rs12072582#frequency_tab ">ALFA</a>)<br />C=0./0
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(ALSPAC)<br />C=0.00027/1
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(TWINSUK)<br />C=0.012533/1870
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(GnomAD_genomes)<br />C=0.013438/3557
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(TOPMED)<br />C=0.013609/177
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(GoESP)<br />C=0.014045/5
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(PharmGKB)<br />C=0.014577/73
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(1000Genomes)<br />C=0.016552/106
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(1000Genomes_30X)<br />C=0.019734/1553
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(PAGE_STUDY)<br />G=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_000001.11&search=NC_000001.11:g.171107747G>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171107747G>C</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171107747G>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171107747G>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171076888G>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171076888G>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171076888G>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171076888G>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.21844G>C&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.21844G>C</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.21844G>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.21844G>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.21871G>C&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.21871G>C</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.21871G>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.21871G>T</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.394G>C&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.394G>C</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.394G>T&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.394G>T</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.394G>C&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.394G>C</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.394G>T&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.394G>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.394G>C&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.394G>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.394G>T&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.394G>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.394G>C&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.394G>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.394G>T&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.394G>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.334G>C&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.334G>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.334G>T&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.334G>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.334G>C&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.334G>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.334G>T&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.334G>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.205G>C&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.205G>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.205G>T&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.205G>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.205G>C&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.205G>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.205G>T&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.205G>T</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.145G>C&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.145G>C</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.145G>T&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.145G>T</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.334G>C&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.334G>C</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.334G>T&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.334G>T</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Asp132His&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Asp132His</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Asp132Tyr&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Asp132Tyr</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Asp132His&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Asp132His</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Asp132Tyr&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Asp132Tyr</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Asp112His&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Asp112His</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Asp112Tyr&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Asp112Tyr</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Asp69His&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Asp69His</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Asp69Tyr&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Asp69Tyr</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Asp112His&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Asp112His</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Asp112Tyr&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Asp112Tyr</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=12072582"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox28363546" class="ui-helper-hidden-accessible">Select item 28363546</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="16" type="checkbox" id="UidCheckBox28363546" value="28363546" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/snp/28363546" ref="ordinalpos=16&ncbi_uid=28363546&link_uid=28363546"> </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/rs28363546">rs28363546</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>G>A</span><span class="for_snp_flanks" snp_info="rs28363546:G/A:1:171107746: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>1:171107746
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(GRCh38)<br />1:171076887
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171107745:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs28363546"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>synonymous_variant,coding_sequence_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.0000186/2
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(<a id="alfa_link" href=" /snp/rs28363546#frequency_tab ">ALFA</a>)<br />A=0.0000402/6
|
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(GnomAD_genomes)<br />A=0.0000428/60
|
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(GnomAD_exomes)<br />A=0.0000793/21
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(TOPMED)<br />A=0.0000889/7
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(PAGE_STUDY)<br />A=0.0001562/1
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(1000Genomes_30X)<br />A=0.0001815/22
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(ExAC)<br />A=0.0001997/1
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(1000Genomes)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171107746G>A&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171107746G>A</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171076887G>A&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171076887G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.21843G>A&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.21843G>A</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.21870G>A&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.21870G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.393G>A&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.393G>A</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.393G>A&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.393G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.393G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.393G>A</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.393G>A&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.393G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.333G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.333G>A</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.333G>A&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.333G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.204G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.204G>A</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.204G>A&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.204G>A</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.144G>A&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.144G>A</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.333G>A&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.333G>A</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox28363549" class="ui-helper-hidden-accessible">Select item 28363549</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="17" type="checkbox" id="UidCheckBox28363549" value="28363549" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/snp/28363549" ref="ordinalpos=17&ncbi_uid=28363549&link_uid=28363549"> </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/rs28363549">rs28363549</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>T</span><span class="for_snp_flanks" snp_info="rs28363549:C/T:1:171108207: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>1:171108207
|
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(GRCh38)<br />1:171077348
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171108206:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs28363549"><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>pathogenic,uncertain-significance
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0.0001206/32
|
|
(<a id="alfa_link" href=" /snp/rs28363549#frequency_tab ">ALFA</a>)<br />T=0.0001209/32
|
|
(TOPMED)<br />T=0.0001676/25
|
|
(GnomAD_genomes)<br />T=0.0002144/26
|
|
(ExAC)<br />T=0.0004268/598
|
|
(GnomAD_exomes)<br />T=0.0004685/3
|
|
(1000Genomes_30X)<br />T=0.000599/3
|
|
(1000Genomes)<br />T=0.0021094/166
|
|
(PAGE_STUDY)<br />T=0.0025253/2
|
|
(PRJEB37584)<br />T=0.0060044/11
|
|
(Korea1K)<br />T=0.0075291/22
|
|
(KOREAN)<br />T=0.0080177/58
|
|
(Korea4K)<br />T=0.0134529/6
|
|
(HapMap)<br />T=0.029351/2273
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(TOMMO)<br />C=0.5/2
|
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(SGDP_PRJ)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171108207C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171108207C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171077348C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171077348C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.22304C>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.22304C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.22331C>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.22331C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.613C>T&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.613C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.613C>T&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.613C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.613C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.613C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.613C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.613C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.553C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.553C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.553C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.553C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.424C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.424C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.424C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.424C>T</a>, <a href=" /projects/sviewer/?id=NG_082240.1&search=NG_082240.1:g.605C>T&v=1:100&content=5 " target=" _blank ">NG_082240.1:g.605C>T</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.553C>T&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.553C>T</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Arg205Cys&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Arg205Cys</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Arg205Cys&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Arg205Cys</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Arg185Cys&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Arg185Cys</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Arg142Cys&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Arg142Cys</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Arg185Cys&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Arg185Cys</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="UidCheckBox28363565" class="ui-helper-hidden-accessible">Select item 28363565</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="18" type="checkbox" id="UidCheckBox28363565" value="28363565" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/snp/28363565" ref="ordinalpos=18&ncbi_uid=28363565&link_uid=28363565"> </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/rs28363565">rs28363565</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>C</span><span class="for_snp_flanks" snp_info="rs28363565:T/C:1:171111016: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>1:171111016
|
|
(GRCh38)<br />1:171080157
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171111015:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs28363565"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>intron_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">C=0.0006241/9
|
|
(<a id="alfa_link" href=" /snp/rs28363565#frequency_tab ">ALFA</a>)<br />C=0.0000678/94
|
|
(GnomAD_exomes)<br />C=0.0002155/26
|
|
(ExAC)<br />C=0.0005382/7
|
|
(GoESP)<br />C=0.0006766/101
|
|
(GnomAD_genomes)<br />C=0.0007934/210
|
|
(TOPMED)<br />C=0.0009369/6
|
|
(1000Genomes_30X)<br />C=0.0009984/5
|
|
(1000Genomes)<br />C=0.0092593/2
|
|
(Qatari)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171111016T>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171111016T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171080157T>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171080157T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.25113T>C&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.25113T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.25140T>C&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.25140T>C</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox28363581" class="ui-helper-hidden-accessible">Select item 28363581</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="19" type="checkbox" id="UidCheckBox28363581" value="28363581" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/snp/28363581" ref="ordinalpos=19&ncbi_uid=28363581&link_uid=28363581"> </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/rs28363581">rs28363581</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>C</span><span class="for_snp_flanks" snp_info="rs28363581:T/C:1:171114258: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>1:171114258
|
|
(GRCh38)<br />1:171083398
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171114257:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs28363581"><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,not-provided
|
|
</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=0.0002987/103
|
|
(<a id="alfa_link" href=" /snp/rs28363581#frequency_tab ">ALFA</a>)<br />C=0.0001434/201
|
|
(GnomAD_exomes)<br />C=0.0003893/47
|
|
(ExAC)<br />C=0.0013071/17
|
|
(GoESP)<br />C=0.0014734/220
|
|
(GnomAD_genomes)<br />C=0.0017228/456
|
|
(TOPMED)<br />C=0.0019968/10
|
|
(1000Genomes)<br />C=0.0021861/14
|
|
(1000Genomes_30X)<br />C=0.0024652/194
|
|
(PAGE_STUDY)<br />C=0.0027933/1
|
|
(PharmGKB)<br />C=0.0046296/1
|
|
(Qatari)<br />C=0.0079365/4
|
|
(HapMap)<br />T=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_000001.11&search=NC_000001.11:g.171114258T>C&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171114258T>C</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171083398T>C&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171083398T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.28355T>C&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.28355T>C</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.28381T>C&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.28381T>C</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.1079T>C&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.1079T>C</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.1079T>C&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.1079T>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.1079T>C&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.1079T>C</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.1079T>C&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.1079T>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.1019T>C&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.1019T>C</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.1019T>C&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.1019T>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.890T>C&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.890T>C</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.890T>C&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.890T>C</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.1019T>C&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.1019T>C</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Leu360Pro&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Leu360Pro</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Leu360Pro&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Leu360Pro</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Leu340Pro&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Leu340Pro</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Leu297Pro&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Leu297Pro</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Leu340Pro&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Leu340Pro</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="UidCheckBox28363595" class="ui-helper-hidden-accessible">Select item 28363595</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="20" type="checkbox" id="UidCheckBox28363595" value="28363595" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/snp/28363595" ref="ordinalpos=20&ncbi_uid=28363595&link_uid=28363595"> </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/rs28363595">rs28363595</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>G,T</span><span class="for_snp_flanks" snp_info="rs28363595:C/G/T:1:171117373:snv:1"><a class="anchor_show_flank_toggle">
|
|
[Show Flanks]
|
|
</a></span></dd><dt>Chromosome: </dt><dd>1:171117373
|
|
(GRCh38)<br />1:171086513
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000001.11:171117372:C:G,NC_000001.11:171117372:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs"><span class="highlight" style="background-color:">FMO3</span> (<a href="/variation/view/?q=rs28363595"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>synonymous_variant,missense_variant,coding_sequence_variant
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>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">T=0.000403/91
|
|
(<a id="alfa_link" href=" /snp/rs28363595#frequency_tab ">ALFA</a>)<br />T=0.000917/137
|
|
(GnomAD_genomes)<br />T=0.001171/310
|
|
(TOPMED)<br />T=0.001296/102
|
|
(PAGE_STUDY)<br />T=0.001899/230
|
|
(ExAC)<br />T=0.004685/30
|
|
(1000Genomes_30X)<br />T=0.005192/26
|
|
(1000Genomes)<br />T=0.008897/689
|
|
(TOMMO)<br />T=0.018868/8
|
|
(HapMap)<br />T=0.018939/15
|
|
(PRJEB37584)<br />T=0.023472/43
|
|
(Korea1K)<br />T=0.024298/71
|
|
(KOREAN)<br />T=0.02585/187
|
|
(Korea4K)<br />T=0.03268/20
|
|
(Vietnamese)<br />C=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_000001.11&search=NC_000001.11:g.171117373C>G&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171117373C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.11&search=NC_000001.11:g.171117373C>T&v=1:100&content=5 " target=" _blank ">NC_000001.11:g.171117373C>T</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171086513C>G&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171086513C>G</a>, <a href=" /projects/sviewer/?id=NC_000001.10&search=NC_000001.10:g.171086513C>T&v=1:100&content=5 " target=" _blank ">NC_000001.10:g.171086513C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.31470C>G&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.31470C>G</a>, <a href=" /projects/sviewer/?id=NG_012690.2&search=NG_012690.2:g.31470C>T&v=1:100&content=5 " target=" _blank ">NG_012690.2:g.31470C>T</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.31496C>G&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.31496C>G</a>, <a href=" /projects/sviewer/?id=NG_012690.1&search=NG_012690.1:g.31496C>T&v=1:100&content=5 " target=" _blank ">NG_012690.1:g.31496C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.1530C>G&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.1530C>G</a>, <a href=" /projects/sviewer/?id=NM_006894.6&search=NM_006894.6:c.1530C>T&v=1:100&content=5 " target=" _blank ">NM_006894.6:c.1530C>T</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.1530C>G&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.1530C>G</a>, <a href=" /projects/sviewer/?id=NM_006894.5&search=NM_006894.5:c.1530C>T&v=1:100&content=5 " target=" _blank ">NM_006894.5:c.1530C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.1530C>G&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.1530C>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.3&search=NM_001002294.3:c.1530C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.3:c.1530C>T</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.1530C>G&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.1530C>G</a>, <a href=" /projects/sviewer/?id=NM_001002294.2&search=NM_001002294.2:c.1530C>T&v=1:100&content=5 " target=" _blank ">NM_001002294.2:c.1530C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.1470C>G&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.1470C>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.2&search=NM_001319173.2:c.1470C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.2:c.1470C>T</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.1470C>G&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.1470C>G</a>, <a href=" /projects/sviewer/?id=NM_001319173.1&search=NM_001319173.1:c.1470C>T&v=1:100&content=5 " target=" _blank ">NM_001319173.1:c.1470C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.1341C>G&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.1341C>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.2&search=NM_001319174.2:c.1341C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.2:c.1341C>T</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.1341C>G&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.1341C>G</a>, <a href=" /projects/sviewer/?id=NM_001319174.1&search=NM_001319174.1:c.1341C>T&v=1:100&content=5 " target=" _blank ">NM_001319174.1:c.1341C>T</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.1470C>G&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.1470C>G</a>, <a href=" /projects/sviewer/?id=XM_047416207.1&search=XM_047416207.1:c.1470C>T&v=1:100&content=5 " target=" _blank ">XM_047416207.1:c.1470C>T</a>, <a href=" /projects/sviewer/?id=NP_008825.4&search=NP_008825.4:p.Phe510Leu&v=1:100&content=5 " target=" _blank ">NP_008825.4:p.Phe510Leu</a>, <a href=" /projects/sviewer/?id=NP_001002294.1&search=NP_001002294.1:p.Phe510Leu&v=1:100&content=5 " target=" _blank ">NP_001002294.1:p.Phe510Leu</a>, <a href=" /projects/sviewer/?id=NP_001306102.1&search=NP_001306102.1:p.Phe490Leu&v=1:100&content=5 " target=" _blank ">NP_001306102.1:p.Phe490Leu</a>, <a href=" /projects/sviewer/?id=NP_001306103.1&search=NP_001306103.1:p.Phe447Leu&v=1:100&content=5 " target=" _blank ">NP_001306103.1:p.Phe447Leu</a>, <a href=" /projects/sviewer/?id=XP_047272163.1&search=XP_047272163.1:p.Phe490Leu&v=1:100&content=5 " target=" _blank ">XP_047272163.1:p.Phe490Leu</a></span></div></dd>
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</dl></div><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:exsl="http://exslt.org/common" xmlns:str="http://exslt.org/strings" class="aux"><p class="links nohighlight"></p></div></div></div><script type="text/javascript"><!--
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["ShowCloseIcon","yes"],
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- - - - - - - - end Results - - - - - -
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<div class="title_and_pager bottom">
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<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno2">Page </label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.cPage" id="pageno2" type="text" class="num" sid="6" value="1" last="695" /> of 695</h3><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="8" page="2" accesskey="k" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="9" page="695" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Last >></a></div>
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</div>
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<div class="results_settings bottom"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set2" data-jigconfig="triggerPosition : 'top center',destPosition : 'bottom center',destSelector : '#display_settings_menu2', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set2 ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="12" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="13" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="14" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Sorted by SNP_ID</a></li></ul><div id="display_settings_menu2" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPresentation2" sid="21" value="SnpSum" format="" id="SnpSum2" checked="true" /><label for="SnpSum2">Summary</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="11" value="5" id="ps52" /><label for="ps52">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="12" value="10" id="ps102" /><label for="ps102">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="13" value="20" id="ps202" checked="true" /><label for="ps202">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="14" value="50" id="ps502" /><label for="ps502">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="15" value="100" id="ps1002" /><label for="ps1002">100</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="16" value="200" id="ps2002" /><label for="ps2002">200</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="11" value="none" id="none2" /><label for="none2">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="12" value="SNP_ID" id="SNP_ID2" checked="true" /><label for="SNP_ID2">SNP_ID</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="13" value="CHRPOS" id="CHRPOS2" /><label for="CHRPOS2">Chromosome Base Position</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SetDisplay" sid="2" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto2" data-jigconfig="triggerPosition:'top center', destPosition : 'bottom center',destSelector : '#send_to_menu2', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu2" class="tgt_dark">Send to:</a><script type="text/javascript">
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jQuery(document).ready( function () {
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jQuery("#send_to_menu2 input[type='radio']").click( function () {
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var selectedValue = jQuery(this).val().toLowerCase();
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var selectedDiv = jQuery("#send_to_menu2 div." + selectedValue);
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if(selectedDiv.is(":hidden")){
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jQuery("#send_to_menu2 div.submenu:visible").slideUp();
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selectedDiv.slideDown();
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});
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});
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jQuery("#sendto2").bind("ncbipopperclose", function(){
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jQuery("#send_to_menu2 div.submenu:visible").css("display","none");
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jQuery("#send_to_menu2 input[type='radio']:checked").attr("checked",false);
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});
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</script></h4><div id="send_to_menu2" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="11" value="File" id="dest_File2" /><label for="dest_File2">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="12" value="AddToClipboard" id="dest_AddToClipboard2" /><label for="dest_AddToClipboard2">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendTo" sid="13" value="AddToCollections" id="dest_AddToCollections2" /><label for="dest_AddToCollections2">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File2" style="display: none;"><p id="submenu_File_hint2" class="hidden"></p><ul><li><label for="file_format2">Format</label><select id="file_format2" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FFormat2" sid="101"><option value="SnpSum" format="text" selected="selected">Summary</option><option value="XML" format="text">XML</option><option value="Tab" format="text">Tab</option></select></li><li><label for="file_sort2">Sort by</label><select id="file_sort2" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.FSort2" sid="51"><option value="">Default order</option><option value="SNP_ID" selected="selected">SNP_ID</option><option value="CHRPOS">Chromosome Base Position</option></select></li></ul><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="11" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard2" style="display: none;"><p id="submenu_AddToClipboard_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="12" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections2" style="display: none;"><p id="submenu_AddToCollections_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SendToSubmit" sid="13" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div></div>
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</div>
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</div>
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div>
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<div class="no_filters app_msg"><p><strong><a href="/sites/myncbi/snp/filters">Filters: </a></strong><a href="/sites/myncbi/snp/filters">Manage Filters</a></p></div>
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<!-- Knowledge/Fact Panel -->
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<div class="portlet">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Find related data</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="RelatedDataLinks" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.Shutter"></a>
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</div>
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<div class="portlet_content">
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<ul class="related">
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<li>
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<label for="rdDatabase">Database: </label>
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<select name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.rdDatabase" sid="1" id="rdDatabase">
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<option value="rddbto">Select</option>
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<option value="bioproject">BioProject</option>
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<option value="biosample">BioSample</option>
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<option value="clinvar">ClinVar</option>
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<option value="gap">dbGaP</option>
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<option value="dbvar">dbVar</option>
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<option value="gene">Gene</option>
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<option value="nuccore">Nucleotide</option>
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<option value="pmc">PMC</option>
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<option value="protein">Protein</option>
|
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<option value="snp">SNP</option>
|
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<option value="structure">Structure</option>
|
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<option value="taxonomy">Taxonomy</option>
|
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</select>
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</li>
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<li>
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<div id="rdOption" style="display: none;">
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<label for="rdLinkOption">Option: </label>
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<select name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.rdLinkOption" sid="1" id="rdLinkOption"></select>
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</div>
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</li>
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</ul>
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<p id="rdDescr"></p>
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<input type="hidden" id="rdqk" value="90966" />
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</div>
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</div>
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<div class="portlet">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Search details</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Discovery_SearchDetails" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.Shutter"></a>
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</div>
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<div class="portlet_content">
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<textarea name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="snp">FMO3[All Fields]</textarea>
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<div class="buttonwrap">
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<button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.SearchDetailsQuery" sid="1" class="jig-ncbibutton">Search</button>
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</div>
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<a class="seemore" href="/snp/details?querykey=90966" ref="log$=details">
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See more...
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</a>
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</div>
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</div>
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<div class="portlet">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Recent activity</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.Shutter"></a>
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</div>
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<div class="portlet_content">
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<div id="HTDisplay" class="">
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<div class="action">
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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</a>
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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</a>
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