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870 lines
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223 KiB
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<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
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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="refseq">RefSeq</option><option value="books">Books</option><option value="protein" class="last">Protein</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search SNP" value="5594[GENE_ID]" 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=102" 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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</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:'5594%5BGENE_ID%5D',qk:'102',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="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_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="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></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 class="title_and_pager">
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<div><h2>Search results</h2><h3 class="result_count left">Items: 1 to 20 of 46242</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="46242" /><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
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<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno">Page </label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.cPage" id="pageno" type="text" class="num" sid="1" value="1" last="2313" /> of 2313</h3><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="3" page="2" accesskey="k" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="4" page="2313" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.Page">Last >></a><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_Pager.CurrPage" sid="1" type="hidden" value="1" /></div>
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</div>
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<div id="messagearea" class="empty">
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- - - - - - - - begin Results - - - - - -
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--><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1803545" class="ui-helper-hidden-accessible">Select item 1803545</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="1" type="checkbox" id="UidCheckBox1803545" value="1803545" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/snp/1803545" ref="ordinalpos=1&ncbi_uid=1803545&link_uid=1803545"> </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/rs1803545">rs1803545</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="rs1803545:G/A/C:22:21772876: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>22:21772876
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(GRCh38)<br />22:22127165
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772875:G:A,NC_000022.11:21772875:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs1803545"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant,synonymous_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.000279/12
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(<a id="alfa_link" href=" /snp/rs1803545#frequency_tab ">ALFA</a>)<br />A=0.000077/1
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(GoESP)<br />A=0.000457/64
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(GnomAD)<br />A=0.000812/215
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(TOPMED)<br />A=0.001335/162
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(ExAC)<br />A=0.001365/343
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(GnomAD_exomes)<br />A=0.003279/16
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(1000Genomes)<br />A=0.009772/6
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(Vietnamese)<br />A=0.011811/12
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(HapMap)<br />A=0.017467/32
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(Korea1K)<br />A=0.018089/53
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(KOREAN)<br />A=0.033513/562
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(TOMMO)<br />G=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_000022.11&search=NC_000022.11:g.21772876G>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772876G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772876G>C&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772876G>C</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127165G>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127165G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127165G>C&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127165G>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99805C>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99805C>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99805C>G&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99805C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.963C>G</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp321Glu&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp321Glu</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp321Glu&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp321Glu</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=1803545"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox375334289" class="ui-helper-hidden-accessible">Select item 375334289</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="2" type="checkbox" id="UidCheckBox375334289" value="375334289" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/snp/375334289" ref="ordinalpos=2&ncbi_uid=375334289&link_uid=375334289"> </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/rs375334289">rs375334289</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="rs375334289:T/C:22:21788350: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>22:21788350
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(GRCh38)<br />22:22142639
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21788349:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs375334289"><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>likely-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">C=0./0
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(<a id="alfa_link" href=" /snp/rs375334289#frequency_tab ">ALFA</a>)<br />C=0.000004/1
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(GnomAD_exomes)<br />C=0.000021/3
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(GnomAD)<br />C=0.00003/8
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(TOPMED)<br />C=0.000231/3
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(GoESP)<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_000022.11&search=NC_000022.11:g.21788350T>C&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21788350T>C</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22142639T>C&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22142639T>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.84331A>G&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.84331A>G</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.763A>G&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.763A>G</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.763A>G&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.763A>G</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.763A>G&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.763A>G</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.763A>G&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.763A>G</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ile255Val&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ile255Val</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ile255Val&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ile255Val</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="UidCheckBox751880548" class="ui-helper-hidden-accessible">Select item 751880548</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="3" type="checkbox" id="UidCheckBox751880548" value="751880548" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/snp/751880548" ref="ordinalpos=3&ncbi_uid=751880548&link_uid=751880548"> </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/rs751880548">rs751880548</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>GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC</span><span class="for_snp_flanks" snp_info="rs751880548:GCCGCCGCC/-/GCC/GCCGCC/GCCGCCGCCGCC/GCCGCCGCCGCCGCC/GCCGCCGCCGCCGCCGCC:22:21867419:delins:20"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>22:21867430
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(GRCh38)<br />22:22221720
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs751880548"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>initiator_codon_variant,inframe_deletion,inframe_insertion
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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">CCGCCGCCGCCGCCGCC=0./0
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(<a id="alfa_link" href=" /snp/rs751880548#frequency_tab ">ALFA</a>)<br />-=0.00004/1
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(TOMMO)<br />-=0.00171/3
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(Korea1K)<br />CCG=0.025/15
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(NorthernSweden)<br />CCG=0.02632/1
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(GENOME_DK)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[9]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[9]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[3]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[3]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[4]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[4]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[5]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[5]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[7]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[7]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[8]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[8]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[9]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7dup</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="UidCheckBox797044892" class="ui-helper-hidden-accessible">Select item 797044892</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="4" type="checkbox" id="UidCheckBox797044892" value="797044892" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/snp/797044892" ref="ordinalpos=4&ncbi_uid=797044892&link_uid=797044892"> </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/rs797044892">rs797044892</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>C>G</span><span class="for_snp_flanks" snp_info="rs797044892:C/G:22:21805938: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>22:21805938
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(GRCh38)<br />22:22160227
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21805937:C:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs797044892"><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>pathogenic
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</dd><dt>Validated: </dt><dd>by cluster
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21805938C>G&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21805938C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22160227C>G&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22160227C>G</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.66743G>C&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.66743G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.404G>C&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.404G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.404G>C&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.404G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.404G>C&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.404G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.404G>C&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.404G>C</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Arg135Thr&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Arg135Thr</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Arg135Thr&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Arg135Thr</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="UidCheckBox1057519911" class="ui-helper-hidden-accessible">Select item 1057519911</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="5" type="checkbox" id="UidCheckBox1057519911" value="1057519911" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/snp/1057519911" ref="ordinalpos=5&ncbi_uid=1057519911&link_uid=1057519911"> </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/rs1057519911">rs1057519911</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="rs1057519911:C/A/G/T:22:21772875: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>22:21772875
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(GRCh38)<br />22:22127164
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772874:C:A,NC_000022.11:21772874:C:G,NC_000022.11:21772874:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs1057519911"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>stop_gained,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>pathogenic,likely-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">T=0./0
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(<a id="alfa_link" href=" /snp/rs1057519911#frequency_tab ">ALFA</a>)<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_000022.11&search=NC_000022.11:g.21772875C>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772875C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772875C>G&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772875C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772875C>T&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772875C>T</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127164C>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127164C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127164C>G&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127164C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127164C>T&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127164C>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99806G>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99806G>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99806G>C&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99806G>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99806G>A&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99806G>A</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.964G>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.964G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.964G>C&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.964G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.964G>A&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.964G>A</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.964G>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.964G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.964G>C&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.964G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.964G>A&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.964G>A</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.964G>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.964G>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.964G>C&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.964G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.964G>A&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.964G>A</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.964G>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.964G>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.964G>C&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.964G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.964G>A&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.964G>A</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Glu322Ter&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Glu322Ter</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Glu322Gln&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Glu322Gln</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Glu322Lys&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Glu322Lys</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Glu322Ter&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Glu322Ter</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Glu322Gln&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Glu322Gln</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Glu322Lys&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Glu322Lys</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="UidCheckBox2068678455" class="ui-helper-hidden-accessible">Select item 2068678455</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="6" type="checkbox" id="UidCheckBox2068678455" value="2068678455" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/snp/2068678455" ref="ordinalpos=6&ncbi_uid=2068678455&link_uid=2068678455"> </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/rs2068678455">rs2068678455</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</span><span class="for_snp_flanks" snp_info="rs2068678455:G/C:22:21769319: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>22:21769319
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(GRCh38)<br />22:22123608
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21769318:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2068678455"><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
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21769319G>C&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21769319G>C</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22123608G>C&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22123608G>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.103362C>G&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.103362C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.968C>G&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.968C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.968C>G&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.968C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.968C>G&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.968C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.968C>G&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.968C>G</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Pro323Arg&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Pro323Arg</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Pro323Arg&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Pro323Arg</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="UidCheckBox2068716907" class="ui-helper-hidden-accessible">Select item 2068716907</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="7" type="checkbox" id="UidCheckBox2068716907" value="2068716907" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/snp/2068716907" ref="ordinalpos=7&ncbi_uid=2068716907&link_uid=2068716907"> </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/rs2068716907">rs2068716907</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>A,C,G</span><span class="for_snp_flanks" snp_info="rs2068716907:T/A/C/G:22:21772886: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>22:21772886
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(GRCh38)<br />22:22127175
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772885:T:A,NC_000022.11:21772885:T:C,NC_000022.11:21772885:T:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2068716907"><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
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772886T>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772886T>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772886T>C&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772886T>C</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772886T>G&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772886T>G</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127175T>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127175T>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127175T>C&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127175T>C</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127175T>G&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127175T>G</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99795A>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99795A>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99795A>G&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99795A>G</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99795A>C&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99795A>C</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.953A>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.953A>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.953A>G&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.953A>G</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.953A>C&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.953A>C</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.953A>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.953A>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.953A>G&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.953A>G</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.953A>C&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.953A>C</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.953A>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.953A>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.953A>G&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.953A>G</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.953A>C&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.953A>C</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.953A>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.953A>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.953A>G&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.953A>G</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.953A>C&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.953A>C</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp318Val&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp318Val</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp318Gly&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp318Gly</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp318Ala&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp318Ala</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp318Val&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp318Val</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp318Gly&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp318Gly</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp318Ala&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp318Ala</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="UidCheckBox2068716940" class="ui-helper-hidden-accessible">Select item 2068716940</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="8" type="checkbox" id="UidCheckBox2068716940" value="2068716940" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/snp/2068716940" ref="ordinalpos=8&ncbi_uid=2068716940&link_uid=2068716940"> </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/rs2068716940">rs2068716940</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="rs2068716940:C/A/G/T:22:21772887: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>22:21772887
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(GRCh38)<br />22:22127176
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772886:C:A,NC_000022.11:21772886:C:G,NC_000022.11:21772886:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2068716940"><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
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">T=0./0
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(<a id="alfa_link" href=" /snp/rs2068716940#frequency_tab ">ALFA</a>)<br />T=0.000004/1
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(TOPMED)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772887C>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772887C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772887C>G&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772887C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772887C>T&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772887C>T</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127176C>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127176C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127176C>G&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127176C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127176C>T&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127176C>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99794G>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99794G>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99794G>C&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99794G>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99794G>A&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99794G>A</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.952G>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.952G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.952G>C&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.952G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.952G>A&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.952G>A</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.952G>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.952G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.952G>C&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.952G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.952G>A&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.952G>A</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.952G>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.952G>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.952G>C&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.952G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.952G>A&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.952G>A</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.952G>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.952G>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.952G>C&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.952G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.952G>A&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.952G>A</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp318Tyr&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp318Tyr</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp318His&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp318His</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp318Asn&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp318Asn</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp318Tyr&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp318Tyr</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp318His&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp318His</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp318Asn&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp318Asn</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="UidCheckBox2068717436" class="ui-helper-hidden-accessible">Select item 2068717436</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="9" type="checkbox" id="UidCheckBox2068717436" value="2068717436" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/snp/2068717436" ref="ordinalpos=9&ncbi_uid=2068717436&link_uid=2068717436"> </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/rs2068717436">rs2068717436</a><em> [Homo sapiens]</em></span><ul class="alt_suspect"></ul><dl class="snpsum_dl_left_align"><dt>Variant type:</dt><dd>SNV</dd><dt>Alleles:</dt><dd><span>T>A,C</span><span class="for_snp_flanks" snp_info="rs2068717436:T/A/C:22:21772925: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>22:21772925
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(GRCh38)<br />22:22127214
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772924:T:A,NC_000022.11:21772924:T:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2068717436"><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>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">C=0./0
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(<a id="alfa_link" href=" /snp/rs2068717436#frequency_tab ">ALFA</a>)<br />C=0.000007/1
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(GnomAD)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772925T>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772925T>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772925T>C&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772925T>C</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127214T>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127214T>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127214T>C&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127214T>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99756A>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99756A>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99756A>G&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99756A>G</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.914A>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.914A>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.914A>G&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.914A>G</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.914A>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.914A>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.914A>G&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.914A>G</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.914A>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.914A>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.914A>G&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.914A>G</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.914A>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.914A>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.914A>G&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.914A>G</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Glu305Val&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Glu305Val</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Glu305Gly&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Glu305Gly</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Glu305Val&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Glu305Val</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Glu305Gly&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Glu305Gly</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="UidCheckBox2069052012" class="ui-helper-hidden-accessible">Select item 2069052012</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="10" type="checkbox" id="UidCheckBox2069052012" value="2069052012" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/snp/2069052012" ref="ordinalpos=10&ncbi_uid=2069052012&link_uid=2069052012"> </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/rs2069052012">rs2069052012</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="rs2069052012:G/A:22:21799100: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>22:21799100
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(GRCh38)<br />22:22153389
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21799099:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2069052012"><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
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21799100G>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21799100G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22153389G>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22153389G>A</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.73581C>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.73581C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.521C>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.521C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.521C>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.521C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.521C>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.521C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.521C>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.521C>T</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala174Val&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala174Val</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala174Val&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala174Val</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="UidCheckBox2069154005" class="ui-helper-hidden-accessible">Select item 2069154005</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="11" type="checkbox" id="UidCheckBox2069154005" value="2069154005" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/snp/2069154005" ref="ordinalpos=11&ncbi_uid=2069154005&link_uid=2069154005"> </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/rs2069154005">rs2069154005</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="rs2069154005:G/A:22:21807728: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>22:21807728
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(GRCh38)<br />22:22162017
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21807727:G:A</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2069154005"><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
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21807728G>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21807728G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22162017G>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22162017G>A</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.64953C>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.64953C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.238C>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.238C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.238C>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.238C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.238C>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.238C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.238C>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.238C>T</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.His80Tyr&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.His80Tyr</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.His80Tyr&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.His80Tyr</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="UidCheckBox2069154121" class="ui-helper-hidden-accessible">Select item 2069154121</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="12" type="checkbox" id="UidCheckBox2069154121" value="2069154121" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/snp/2069154121" ref="ordinalpos=12&ncbi_uid=2069154121&link_uid=2069154121"> </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/rs2069154121">rs2069154121</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>T</span><span class="for_snp_flanks" snp_info="rs2069154121:A/T:22:21807745: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>22:21807745
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(GRCh38)<br />22:22162034
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21807744:A:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2069154121"><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
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21807745A>T&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21807745A>T</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22162034A>T&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22162034A>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.64936T>A&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.64936T>A</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.221T>A&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.221T>A</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.221T>A&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.221T>A</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.221T>A&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.221T>A</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.221T>A&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.221T>A</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ile74Asn&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ile74Asn</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ile74Asn&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ile74Asn</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="UidCheckBox2145705712" class="ui-helper-hidden-accessible">Select item 2145705712</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="13" type="checkbox" id="UidCheckBox2145705712" value="2145705712" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/snp/2145705712" ref="ordinalpos=13&ncbi_uid=2145705712&link_uid=2145705712"> </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/rs2145705712">rs2145705712</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>T</span><span class="for_snp_flanks" snp_info="rs2145705712:G/T:22:21807811: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>22:21807811
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(GRCh38)<br />22:22162100
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21807810:G:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2145705712"><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
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21807811G>T&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21807811G>T</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22162100G>T&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22162100G>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.64870C>A&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.64870C>A</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.155C>A&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.155C>A</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.155C>A&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.155C>A</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.155C>A&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.155C>A</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.155C>A&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.155C>A</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala52Asp&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala52Asp</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala52Asp&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala52Asp</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="UidCheckBox2148633839" class="ui-helper-hidden-accessible">Select item 2148633839</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="14" type="checkbox" id="UidCheckBox2148633839" value="2148633839" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/snp/2148633839" ref="ordinalpos=14&ncbi_uid=2148633839&link_uid=2148633839"> </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/rs2148633839">rs2148633839</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="rs2148633839:C/A/G/T:22:21772880: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>22:21772880
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(GRCh38)<br />22:22127169
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772879:C:A,NC_000022.11:21772879:C:G,NC_000022.11:21772879:C:T</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs2148633839"><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
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</dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772880C>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772880C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772880C>G&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772880C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772880C>T&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772880C>T</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127169C>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127169C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127169C>G&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127169C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127169C>T&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127169C>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99801G>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99801G>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99801G>C&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99801G>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99801G>A&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99801G>A</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.959G>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.959G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.959G>C&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.959G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.959G>A&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.959G>A</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.959G>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.959G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.959G>C&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.959G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.959G>A&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.959G>A</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.959G>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.959G>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.959G>C&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.959G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.959G>A&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.959G>A</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.959G>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.959G>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.959G>C&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.959G>C</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.959G>A&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.959G>A</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ser320Ile&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ser320Ile</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ser320Thr&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ser320Thr</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ser320Asn&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ser320Asn</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ser320Ile&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ser320Ile</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ser320Thr&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ser320Thr</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ser320Asn&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ser320Asn</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="UidCheckBox59810675" class="ui-helper-hidden-accessible">Select item 59810675</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="15" type="checkbox" id="UidCheckBox59810675" value="59810675" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/snp/59810675" ref="ordinalpos=15&ncbi_uid=59810675&link_uid=59810675"> </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">rs59810675 has merged into <a href="/snp/rs1803545">rs1803545</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="rs59810675:G/A/C:22:21772876: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>22:21772876
|
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(GRCh38)<br />22:22127165
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772875:G:A,NC_000022.11:21772875:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs1803545"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant,synonymous_variant
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</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
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</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
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</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">A=0.000279/12
|
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(<a id="alfa_link" href=" /snp/rs1803545#frequency_tab ">ALFA</a>)<br />A=0.000077/1
|
|
(GoESP)<br />A=0.000457/64
|
|
(GnomAD)<br />A=0.000812/215
|
|
(TOPMED)<br />A=0.001335/162
|
|
(ExAC)<br />A=0.001365/343
|
|
(GnomAD_exomes)<br />A=0.003279/16
|
|
(1000Genomes)<br />A=0.009772/6
|
|
(Vietnamese)<br />A=0.011811/12
|
|
(HapMap)<br />A=0.017467/32
|
|
(Korea1K)<br />A=0.018089/53
|
|
(KOREAN)<br />A=0.033513/562
|
|
(TOMMO)<br />G=0.5/2
|
|
(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_000022.11&search=NC_000022.11:g.21772876G>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772876G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772876G>C&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772876G>C</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127165G>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127165G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127165G>C&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127165G>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99805C>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99805C>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99805C>G&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99805C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.963C>G</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp321Glu&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp321Glu</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp321Glu&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp321Glu</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="UidCheckBox2276009" class="ui-helper-hidden-accessible">Select item 2276009</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="16" type="checkbox" id="UidCheckBox2276009" value="2276009" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/snp/2276009" ref="ordinalpos=16&ncbi_uid=2276009&link_uid=2276009"> </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">rs2276009 has merged into <a href="/snp/rs1803545">rs1803545</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="rs2276009:G/A/C:22:21772876: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>22:21772876
|
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(GRCh38)<br />22:22127165
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21772875:G:A,NC_000022.11:21772875:G:C</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs1803545"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>missense_variant,coding_sequence_variant,synonymous_variant
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|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>benign
|
|
</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=0.000279/12
|
|
(<a id="alfa_link" href=" /snp/rs1803545#frequency_tab ">ALFA</a>)<br />A=0.000077/1
|
|
(GoESP)<br />A=0.000457/64
|
|
(GnomAD)<br />A=0.000812/215
|
|
(TOPMED)<br />A=0.001335/162
|
|
(ExAC)<br />A=0.001365/343
|
|
(GnomAD_exomes)<br />A=0.003279/16
|
|
(1000Genomes)<br />A=0.009772/6
|
|
(Vietnamese)<br />A=0.011811/12
|
|
(HapMap)<br />A=0.017467/32
|
|
(Korea1K)<br />A=0.018089/53
|
|
(KOREAN)<br />A=0.033513/562
|
|
(TOMMO)<br />G=0.5/2
|
|
(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_000022.11&search=NC_000022.11:g.21772876G>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772876G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21772876G>C&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21772876G>C</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127165G>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127165G>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22127165G>C&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22127165G>C</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99805C>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99805C>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.99805C>G&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.99805C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.963C>G</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.963C>T&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.963C>T</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.963C>G&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.963C>G</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Asp321Glu&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Asp321Glu</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Asp321Glu&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Asp321Glu</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="UidCheckBox1265582753" class="ui-helper-hidden-accessible">Select item 1265582753</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="17" type="checkbox" id="UidCheckBox1265582753" value="1265582753" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/snp/1265582753" ref="ordinalpos=17&ncbi_uid=1265582753&link_uid=1265582753"> </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">rs1265582753 has merged into <a href="/snp/rs751880548">rs751880548</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>GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC</span><span class="for_snp_flanks" snp_info="rs1265582753:GCCGCCGCC/-/GCC/GCCGCC/GCCGCCGCCGCC/GCCGCCGCCGCCGCC/GCCGCCGCCGCCGCCGCC:22:21867419:delins:20"><a class="anchor_show_flank_toggle">
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[Show Flanks]
|
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</a></span></dd><dt>Chromosome: </dt><dd>22:21867430
|
|
(GRCh38)<br />22:22221720
|
|
(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs751880548"><span>Varview</span></a>)</span>
|
|
</dd><dt>Functional Consequence: </dt><dd>initiator_codon_variant,inframe_deletion,inframe_insertion
|
|
</dd><dt><a href="/projects/SNP/docs/rs_attributes.html#clinical">Clinical significance</a>: </dt><dd>likely-benign,benign
|
|
</dd><dt>Validated: </dt><dd>by frequency,by alfa,by cluster
|
|
</dd><dt>MAF:</dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false">CCGCCGCCGCCGCCGCC=0./0
|
|
(<a id="alfa_link" href=" /snp/rs751880548#frequency_tab ">ALFA</a>)<br />-=0.00004/1
|
|
(TOMMO)<br />-=0.00171/3
|
|
(Korea1K)<br />CCG=0.025/15
|
|
(NorthernSweden)<br />CCG=0.02632/1
|
|
(GENOME_DK)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[9]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[9]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[3]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[3]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[4]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[4]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[5]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[5]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[7]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[7]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[8]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[8]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[9]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7dup</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="UidCheckBox888946347" class="ui-helper-hidden-accessible">Select item 888946347</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="18" type="checkbox" id="UidCheckBox888946347" value="888946347" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/snp/888946347" ref="ordinalpos=18&ncbi_uid=888946347&link_uid=888946347"> </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">rs888946347 has merged into <a href="/snp/rs751880548">rs751880548</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>GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC</span><span class="for_snp_flanks" snp_info="rs888946347:GCCGCCGCC/-/GCC/GCCGCC/GCCGCCGCCGCC/GCCGCCGCCGCCGCC/GCCGCCGCCGCCGCCGCC:22:21867419:delins:20"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>22:21867430
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(GRCh38)<br />22:22221720
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs751880548"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>initiator_codon_variant,inframe_deletion,inframe_insertion
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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">CCGCCGCCGCCGCCGCC=0./0
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(<a id="alfa_link" href=" /snp/rs751880548#frequency_tab ">ALFA</a>)<br />-=0.00004/1
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(TOMMO)<br />-=0.00171/3
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(Korea1K)<br />CCG=0.025/15
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(NorthernSweden)<br />CCG=0.02632/1
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(GENOME_DK)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[9]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[9]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[3]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[3]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[4]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[4]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[5]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[5]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[7]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[7]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[8]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[8]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[9]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7dup</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="UidCheckBox770506771" class="ui-helper-hidden-accessible">Select item 770506771</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="19" type="checkbox" id="UidCheckBox770506771" value="770506771" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/snp/770506771" ref="ordinalpos=19&ncbi_uid=770506771&link_uid=770506771"> </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">rs770506771 has merged into <a href="/snp/rs751880548">rs751880548</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>GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC</span><span class="for_snp_flanks" snp_info="rs770506771:GCCGCCGCC/-/GCC/GCCGCC/GCCGCCGCCGCC/GCCGCCGCCGCCGCC/GCCGCCGCCGCCGCCGCC:22:21867419:delins:20"><a class="anchor_show_flank_toggle">
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[Show Flanks]
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</a></span></dd><dt>Chromosome: </dt><dd>22:21867430
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(GRCh38)<br />22:22221720
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000022.11:21867418:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs751880548"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>initiator_codon_variant,inframe_deletion,inframe_insertion
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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">CCGCCGCCGCCGCCGCC=0./0
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(<a id="alfa_link" href=" /snp/rs751880548#frequency_tab ">ALFA</a>)<br />-=0.00004/1
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(TOMMO)<br />-=0.00171/3
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(Korea1K)<br />CCG=0.025/15
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(NorthernSweden)<br />CCG=0.02632/1
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(GENOME_DK)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21867421GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21867421GCC[9]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[3]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[3]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[4]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[4]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[5]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[5]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[7]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[7]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[8]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[8]</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22221711GCC[9]&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22221711GCC[9]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[3]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[3]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[4]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[4]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[5]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[5]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[7]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[7]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[8]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[8]</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.5245CGG[9]&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.5245CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.3&search=NM_138957.3:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.3:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[3]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[3]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[4]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[4]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[5]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[5]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[7]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[7]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[8]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[8]</a>, <a href=" /projects/sviewer/?id=NM_138957.2&search=NM_138957.2:c.5CGG[9]&v=1:100&content=5 " target=" _blank ">NM_138957.2:c.5CGG[9]</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_002736.3&search=NP_002736.3:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_002736.3:p.Ala5_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7del&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7del</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala6_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala6_Ala7dup</a>, <a href=" /projects/sviewer/?id=NP_620407.1&search=NP_620407.1:p.Ala5_Ala7dup&v=1:100&content=5 " target=" _blank ">NP_620407.1:p.Ala5_Ala7dup</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="UidCheckBox6928" class="ui-helper-hidden-accessible">Select item 6928</label><input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_RVSnpSum.uid" sid="20" type="checkbox" id="UidCheckBox6928" value="6928" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/snp/6928" ref="ordinalpos=20&ncbi_uid=6928&link_uid=6928"> </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/rs6928">rs6928</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</span><span class="for_snp_flanks" snp_info="rs6928:C/A/G:22:21760715: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>22:21760715
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(GRCh38)<br />22:22115004
|
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(GRCh37)<br /></dd><dt><a href="/variation/notation/">Canonical SPDI</a>:</dt><dd><span class="snpsum_hgvs">NC_000022.11:21760714:C:A,NC_000022.11:21760714:C:G</span></dd><dt>Gene:</dt><dd><span class="snpsum_hgvs">MAPK1 (<a href="/variation/view/?q=rs6928"><span>Varview</span></a>)</span>
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</dd><dt>Functional Consequence: </dt><dd>genic_downstream_transcript_variant,3_prime_UTR_variant
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</dd><dt>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=0.498729/9420
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(<a id="alfa_link" href=" /snp/rs6928#frequency_tab ">ALFA</a>)<br />C=0.35/147
|
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(SGDP_PRJ)<br />G=0.371935/273
|
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(PRJEB37584)<br />G=0.375/15
|
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(GENOME_DK)<br />G=0.393857/1154
|
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(KOREAN)<br />C=0.412037/89
|
|
(Qatari)<br />G=0.416485/763
|
|
(Korea1K)<br />G=0.435/261
|
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(NorthernSweden)<br />G=0.439097/7359
|
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(TOMMO)<br />C=0.444444/16
|
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(Siberian)<br />G=0.462264/98
|
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(Vietnamese)<br />G=0.472756/2117
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(Estonian)<br />C=0.482356/1859
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(ALSPAC)<br />C=0.484628/1797
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(TWINSUK)<br />G=0.488757/2448
|
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(1000Genomes)<br />G=0.490311/68619
|
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(GnomAD)<br />C=0.493988/493
|
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(GoNL)<br />G=0.49451/38915
|
|
(PAGE_STUDY)<br />C=0.494548/130902
|
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(TOPMED)<br />G=0.494715/936
|
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(HapMap)<br /></div></dd><dt>HGVS: </dt><dd><div data-jig="ncbiexpander" data-jigconfig="auto:false"><span class="snpsum_hgvs"><a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21760715C>A&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21760715C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.11&search=NC_000022.11:g.21760715C>G&v=1:100&content=5 " target=" _blank ">NC_000022.11:g.21760715C>G</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22115004C>A&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22115004C>A</a>, <a href=" /projects/sviewer/?id=NC_000022.10&search=NC_000022.10:g.22115004C>G&v=1:100&content=5 " target=" _blank ">NC_000022.10:g.22115004C>G</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.111966G>T&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.111966G>T</a>, <a href=" /projects/sviewer/?id=NG_023054.2&search=NG_023054.2:g.111966G>C&v=1:100&content=5 " target=" _blank ">NG_023054.2:g.111966G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.*3535G>T&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.*3535G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.5&search=NM_002745.5:c.*3535G>C&v=1:100&content=5 " target=" _blank ">NM_002745.5:c.*3535G>C</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.*3535G>T&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.*3535G>T</a>, <a href=" /projects/sviewer/?id=NM_002745.4&search=NM_002745.4:c.*3535G>C&v=1:100&content=5 " target=" _blank ">NM_002745.4:c.*3535G>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=6928"><span class="links nohighlight snpsum_text_icon">PubMed</span></a></p></div></div></div><script type="text/javascript"><!--
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<div class="results_settings bottom"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set2" data-jigconfig="triggerPosition : 'top center',destPosition : 'bottom center',destSelector : '#display_settings_menu2', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set2 ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="12" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="13" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display" sid="14" href="#" sourceContent="display_settings_menu2" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.Display">Sorted by SNP_ID</a></li></ul><div id="display_settings_menu2" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPresentation2" sid="21" value="SnpSum" format="" id="SnpSum2" checked="true" /><label for="SnpSum2">Summary</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="11" value="5" id="ps52" /><label for="ps52">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="12" value="10" id="ps102" /><label for="ps102">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="13" value="20" id="ps202" checked="true" /><label for="ps202">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="14" value="50" id="ps502" /><label for="ps502">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="15" value="100" id="ps1002" /><label for="ps1002">100</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sPageSize2" sid="16" value="200" id="ps2002" /><label for="ps2002">200</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="11" value="none" id="none2" /><label for="none2">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="12" value="SNP_ID" id="SNP_ID2" checked="true" /><label for="SNP_ID2">SNP_ID</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.sSort2" sid="13" value="CHRPOS" id="CHRPOS2" /><label for="CHRPOS2">Chromosome Base Position</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Snp_DisplayBar.SetDisplay" sid="2" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto2" data-jigconfig="triggerPosition:'top center', destPosition : 'bottom center',destSelector : '#send_to_menu2', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu2" class="tgt_dark">Send to:</a><script type="text/javascript">
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jQuery(document).ready( function () {
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jQuery("#send_to_menu2 input[type='radio']").click( function () {
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var selectedValue = jQuery(this).val().toLowerCase();
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var selectedDiv = jQuery("#send_to_menu2 div." + selectedValue);
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if(selectedDiv.is(":hidden")){
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jQuery("#send_to_menu2 div.submenu:visible").slideUp();
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selectedDiv.slideDown();
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}
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});
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});
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jQuery("#sendto2").bind("ncbipopperclose", function(){
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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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<button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.rdFind" sid="1" id="rdFind" disabled="disabled" class="jig-ncbibutton">Find items</button>
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<input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.DbName" sid="1" type="hidden" id="DbName" value="snp" />
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<input type="hidden" id="rdqk" value="102" />
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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">
|
|
<textarea name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="snp">5594[GENE_ID]</textarea>
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|
<div class="buttonwrap">
|
|
<button name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.Discovery_SearchDetails.SearchDetailsQuery" sid="1" class="jig-ncbibutton">Search</button>
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|
</div>
|
|
<a class="seemore" href="/snp/details?querykey=102" ref="log$=details">
|
|
See more...
|
|
</a>
|
|
</div>
|
|
</div>
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<div class="portlet">
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<div class="portlet_head">
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<div class="portlet_title">
|
|
<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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<input name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
|
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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</a>
|
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle">
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|
Turn Off
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</a>
|
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
|
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</a>
|
|
</div>
|
|
<ul id="activity">
|
|
<li class="ra_qry two_line">
|
|
<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67c80e8efeee5b00ac40b42a">5594[GENE_ID] <span class="number">(46242)</span></a>
|
|
<div class="tertiary">SNP</div>
|
|
</li>
|
|
<li class="ra_qry two_line">
|
|
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67c80e8bb70fbb196045ec5f">MAPK1[GENE] <span class="number">(46242)</span></a>
|
|
<div class="tertiary">SNP</div>
|
|
</li>
|
|
<li class="ra_qry two_line">
|
|
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67c80e886d1ec11b6fa020d8">"frameshift"[Function Class] <span class="number">(0)</span></a>
|
|
<div class="tertiary">SNP</div>
|
|
</li>
|
|
<li class="ra_qry two_line">
|
|
<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67c80e87d5edb449bf842b16">"splice 5 snp"[Filter] <span class="number">(0)</span></a>
|
|
<div class="tertiary">SNP</div>
|
|
</li>
|
|
<li class="ra_qry two_line">
|
|
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67c80e84d5edb449bf84134d">"likely pathogenic"[Clinical Significance] <span class="number">(69359)</span></a>
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|
<div class="tertiary">SNP</div>
|
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</li>
|
|
</ul>
|
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<p class="HTOn">Your browsing activity is empty.</p>
|
|
<p class="HTOff">Activity recording is turned off.</p>
|
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<p id="turnOn" class="HTOff">
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<a name="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.Snp.Snp_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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</p>
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<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div id="NCBIFooter_dynamic">
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<!--<component id="NCBIBreadcrumbs"/>
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<component id="NCBIHelpDesk"/>-->
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<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=snp&ncbi_pdid=snpsum&ncbi_phid=CE8D55CD7C801C510000000000B80090" /></noscript>
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</div>
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<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
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<section class="icon-section">
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<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
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<div class="grid-container container">
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<div class="icon-section_container">
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<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
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<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
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<title>Twitter</title>
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<g id="twitterx1008">
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<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
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<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
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<title>LinkedIn</title>
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<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
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<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
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<title>GitHub</title>
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<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
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