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1129 lines
No EOL
62 KiB
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<!DOCTYPE html>
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<html lang="en" >
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<head >
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<meta charset="UTF-8">
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<meta http-equiv="X-UA-Compatible" content="IE=edge">
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<!-- Mobile properties -->
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<meta name="HandheldFriendly" content="True">
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<meta name="MobileOptimized" content="320">
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<meta name="viewport" content="width=device-width, initial-scale=1.0">
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<link rel="stylesheet" href="/variation/view/static/uswds/css/uswds.css" />
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<link rel="stylesheet" href="/variation/view/static/nwds/css/nwds.css" />
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<link rel="stylesheet" href="/variation/view/static/nwds/css/header.css" />
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<link rel="stylesheet" href="/variation/view/static/nwds/css/form.css" />
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<link rel="stylesheet" type="text/css" href="/core/extjs/ext-7.1.0/build/classic/theme-gray/resources/theme-gray-all.css"/>
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<link rel="stylesheet" type="text/css" href="/variation/view/static/css/4aeabcc0.vv-all.css"/>
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<title>Variation Viewer</title>
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<!-- Favicons -->
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<link rel="shortcut icon" type="image/ico" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
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<link rel="icon" type="image/png" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
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-->
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<link rel="icon" type="image/png" sizes="192x192" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
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<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
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<meta name="robots" content="index, follow"/>
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<!-- Logging params: Pinger defaults -->
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<meta name="ncbi_app" content="VariationViewer" />
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<meta name="ncbi_pdid" content="index" />
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<meta name="ncbi_phid" content="D0BD8534F7292C8500002A1BFAD33D7C.1.m_4" />
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<meta name="ncbi_page" content="home"/>
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<meta name="ncbi_op" content="page_view"/>
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<meta name="description" content="Explore genetic variations and their clinical significance. Search known variants by gene, phenotype or location - or upload and compare your own data."/>
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<script type="text/javascript">/** GDV config settings */
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window.GB = {
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config: {
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config: {
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history: true,
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taxid: 9606,
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name: "Homo sapiens",
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ranges: [{ chr: "1", start: 196652033, stop: 196747504, object: "CFH" }],
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assemblies: [
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{
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acc: "GCF_000001405.40",
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datasets: [{
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title: "Annotation Release 110",
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name: "NCBI-txid9606-AnnotationRelease110",
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id: "109",
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defaults: { chr: "1" }
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}],
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defaults: { chr: "1", ds: "NCBI-txid9606-AnnotationRelease110" },
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ranges: [{ chr: "1", start: 196642151, stop: 196757231, object: "CFH" }]
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}, {
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acc: "GCF_000001405.25",
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datasets: [{
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title: "Annotation Release 105",
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name: "NCBI-txid9606-AnnotationRelease105",
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id: "105",
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defaults: { chr: "1" }
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}],
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defaults: { chr: "1", ds: "NCBI-txid9606-AnnotationRelease105" },
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ranges: [{ chr: "1", start: 196621173, stop: 196716634, object: "CFH" }]
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,
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defaults: {
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"tms-version": "0.7",
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resource: "Variation_Viewer_1-1",
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app: "VariationViewer",
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taxid: 9606,
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version: "3.2"
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},
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version: 521,
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state: {
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preserveURL: true,
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history: true,
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hide: "q,chr,from,to,mk,search"
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loadHubTracks: true
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myncbi: {
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sv_wrap: {
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queryAlert: true
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const baseURL = '/variation/view';
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const projectBaseURL = '/projects/variation/viewer';
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</script>
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<script type="text/javascript">
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|
||
function _GBGetAssemblyInfo(){
|
||
const defs = {"assemblies": [{"name": "GRCh38.p14", "acc": "GCF_000001405.40", "taxid": 9606, "reference": true, "regions": true, "defaultSeq": "NC_000001.11", "scaffoldCount": 166, "altCount": 514, "orgName": "Homo sapiens", "orgCommonName": "human", "type": "Full-Assembly", "aliases": ["GCF_000001405.40", "GCF_000001405.39", "GCF_000001405.38", "GCF_000001405.37", "GCF_000001405.36", "GCF_000001405.35", "GCF_000001405.34", "GCF_000001405.33", "GCF_000001405.32", "GCF_000001405.31", "GCF_000001405.30", "GCF_000001405.29", "GCF_000001405.28", "GCF_000001405.27", "GCF_000001405.26", "GCA_000001405.29", "GCA_000001405.28", "GCA_000001405.27", "GCA_000001405.26", "GCA_000001405.25", "GCA_000001405.24", "GCA_000001405.23", "GCA_000001405.22", "GCA_000001405.21", "GCA_000001405.20", "GCA_000001405.19", "GCA_000001405.18", "GCA_000001405.17", "GCA_000001405.16", "GCA_000001405.15"], "units": [{"name": "Primary Assembly", "acc": "GCF_000001305.16", "taxid": 9606, "type": "Primary-Unit", 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"taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_29", "acc": "GCF_000510105.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_30", "acc": "GCF_000510125.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_31", "acc": "GCF_000510135.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_32", "acc": "GCF_000510145.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_33", "acc": "GCF_000510155.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_34", "acc": "GCF_000510165.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_35", "acc": "GCF_000510175.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_8", "acc": "GCF_000510225.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}, {"name": "19", "seqname": "19"}]}, {"name": "ALT_REF_LOCI_9", "acc": "GCF_000510235.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "19", "seqname": "19"}]}]}, {"name": "GRCh37.p13", "acc": "GCF_000001405.25", "taxid": 9606, "reference": true, "regions": true, "defaultSeq": "NC_000001.10", "scaffoldCount": 59, "altCount": 213, "orgName": "Homo sapiens", "orgCommonName": "human", "type": "Full-Assembly", "aliases": ["GCF_000001405.25", "GCF_000001405.24", "GCF_000001405.23", "GCF_000001405.22", "GCF_000001405.21", "GCF_000001405.17", "GCF_000001405.14", "GCF_000001405.13", "GCA_000001405.9", "GCA_000001405.8", "GCA_000001405.7", "GCA_000001405.6", "GCA_000001405.5", "GCA_000001405.4", "GCA_000001405.3", "GCA_000001405.2", "GCA_000001405.14", "GCA_000001405.13", "GCA_000001405.12", "GCA_000001405.11", "GCA_000001405.10", "GCA_000001405.1"], "units": [{"name": "Primary Assembly", "acc": "GCF_000001305.13", "taxid": 9606, "type": "Primary-Unit", "seq": [{"name": "1", "ucsc_name": "chr1", "chrom": 1, "topl": 1, "length": 249250621, "acc": "NC_000001.10", "gi": 224589800}, {"name": "2", "ucsc_name": "chr2", "chrom": 1, "topl": 1, "length": 243199373, "acc": "NC_000002.11", "gi": 224589811}, {"name": "3", "ucsc_name": "chr3", "chrom": 1, "topl": 1, "length": 198022430, "acc": "NC_000003.11", "gi": 224589815}, {"name": "4", "ucsc_name": "chr4", "chrom": 1, "topl": 1, "length": 191154276, "acc": "NC_000004.11", "gi": 224589816}, {"name": "5", "ucsc_name": "chr5", "chrom": 1, "topl": 1, "length": 180915260, "acc": "NC_000005.9", "gi": 224589817}, {"name": "6", "ucsc_name": "chr6", "chrom": 1, "topl": 1, "length": 171115067, "acc": "NC_000006.11", "gi": 224589818}, {"name": "7", "ucsc_name": "chr7", "chrom": 1, "topl": 1, "length": 159138663, "acc": "NC_000007.13", "gi": 224589819}, {"name": "8", "ucsc_name": "chr8", "chrom": 1, "topl": 1, "length": 146364022, "acc": "NC_000008.10", "gi": 224589820}, {"name": "9", "ucsc_name": "chr9", "chrom": 1, "topl": 1, "length": 141213431, "acc": "NC_000009.11", "gi": 224589821}, {"name": "10", "ucsc_name": "chr10", "chrom": 1, "topl": 1, "length": 135534747, "acc": "NC_000010.10", "gi": 224589801}, {"name": "11", "ucsc_name": "chr11", "chrom": 1, "topl": 1, "length": 135006516, "acc": "NC_000011.9", "gi": 224589802}, {"name": "12", "ucsc_name": "chr12", "chrom": 1, "topl": 1, "length": 133851895, "acc": "NC_000012.11", "gi": 224589803}, {"name": "13", "ucsc_name": "chr13", "chrom": 1, "topl": 1, "length": 115169878, "acc": "NC_000013.10", "gi": 224589804}, {"name": "14", "ucsc_name": "chr14", "chrom": 1, "topl": 1, "length": 107349540, "acc": "NC_000014.8", "gi": 224589805}, {"name": "15", "ucsc_name": "chr15", "chrom": 1, "topl": 1, "length": 102531392, "acc": "NC_000015.9", "gi": 224589806}, {"name": "16", "ucsc_name": "chr16", "chrom": 1, "topl": 1, "length": 90354753, "acc": "NC_000016.9", "gi": 224589807}, {"name": "17", "ucsc_name": "chr17", "chrom": 1, "topl": 1, "length": 81195210, "acc": "NC_000017.10", "gi": 224589808}, {"name": "18", "ucsc_name": "chr18", "chrom": 1, "topl": 1, "length": 78077248, "acc": "NC_000018.9", "gi": 224589809}, {"name": "19", "ucsc_name": "chr19", "chrom": 1, "topl": 1, "length": 59128983, "acc": "NC_000019.9", "gi": 224589810}, {"name": "20", "ucsc_name": "chr20", "chrom": 1, "topl": 1, "length": 63025520, "acc": "NC_000020.10", "gi": 224589812}, {"name": "21", "ucsc_name": "chr21", "chrom": 1, "topl": 1, "length": 48129895, "acc": "NC_000021.8", "gi": 224589813}, {"name": "22", "ucsc_name": "chr22", "chrom": 1, "topl": 1, "length": 51304566, "acc": "NC_000022.10", "gi": 224589814}, {"name": "X", "ucsc_name": "chrX", "chrom": 1, "topl": 1, "length": 155270560, "acc": "NC_000023.10", "gi": 224589822}, {"name": "Y", "ucsc_name": "chrY", "chrom": 1, "topl": 1, "length": 59373566, "acc": "NC_000024.9", "gi": 224589823}]}, {"name": "ALT_REF_LOCI_1", "acc": "GCF_000001315.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}]}, {"name": "ALT_REF_LOCI_2", "acc": "GCF_000001325.2", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}]}, {"name": "ALT_REF_LOCI_3", "acc": "GCF_000001335.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}]}, {"name": "ALT_REF_LOCI_4", "acc": "GCF_000001345.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}]}, {"name": "ALT_REF_LOCI_5", "acc": "GCF_000001355.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}]}, {"name": "ALT_REF_LOCI_6", "acc": "GCF_000001365.2", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}]}, {"name": "ALT_REF_LOCI_7", "acc": "GCF_000001375.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "6", "seqname": "6"}]}, {"name": "ALT_REF_LOCI_8", "acc": "GCF_000001385.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "4", "seqname": "4"}]}, {"name": "ALT_REF_LOCI_9", "acc": "GCF_000001395.1", "taxid": 9606, "type": "Alt-Loci", "seq": [{"name": "17", "seqname": "17"}]}, {"name": "PATCHES", "acc": "GCF_000005045.12", "taxid": 9606, "type": "Assembly-Patch", "seq": [{"name": "1", "seqname": "1"}, {"name": "2", "seqname": "2"}, {"name": "3", "seqname": "3"}, {"name": "4", "seqname": "4"}, {"name": "5", "seqname": "5"}, {"name": "6", "seqname": "6"}, {"name": "7", "seqname": "7"}, {"name": "8", "seqname": "8"}, {"name": "9", "seqname": "9"}, {"name": "10", "seqname": "10"}, {"name": "11", "seqname": "11"}, {"name": "12", "seqname": "12"}, {"name": "13", "seqname": "13"}, {"name": "14", "seqname": "14"}, {"name": "15", "seqname": "15"}, {"name": "16", "seqname": "16"}, {"name": "17", "seqname": "17"}, {"name": "18", "seqname": "18"}, {"name": "19", "seqname": "19"}, {"name": "20", "seqname": "20"}, {"name": "21", "seqname": "21"}, {"name": "22", "seqname": "22"}, {"name": "X", "seqname": "X"}]}, {"name": "non-nuclear", "acc": "GCF_000006015.1", "taxid": 9606, "type": "Assembly-Unit", "seq": [{"name": "MT", "ucsc_name": "chrM", "chrom": 1, "topl": 1, "length": 16569, "acc": "NC_012920.1", "gi": 251831106}]}]}]};
|
||
return defs;}
|
||
GB.config.loc = {"query": "rs140597", "assm": "GCF_000001405.40", "queryType": "variation", "type": "variation", "name": "rs140597", "acc": "NC_000015.10", "start": 48487437, "stop": 48487437, "orientation": "", "id": ""};
|
||
|
||
</script>
|
||
|
||
|
||
|
||
<link href="/variation/view/static/xideo/css/x-ideo.css" rel="stylesheet" />
|
||
<script src="/variation/view/static/xideo/js/d3.js" type="text/javascript"></script>
|
||
|
||
<script src="/variation/view/static/xideo/js/x-ideo.min.js" type="text/javascript"></script>
|
||
|
||
|
||
|
||
<script type="text/javascript" src="/core/jig/1.15.3/js/jig.min.js"></script>
|
||
|
||
<script type="text/javascript" src="/projects/genome/uud/js/uud.bbab5365.js"></script>
|
||
<script type="text/javascript" src="/projects/genome/trackmgr/0.7/js/tms.c9bea24e.js"></script>
|
||
|
||
|
||
|
||
<script type="text/javascript" src="/variation/view/static/gbc/js/a947c7e2.gbx.js"></script>
|
||
|
||
|
||
<script type="text/javascript" src="/core/extjs/ext-7.1.0/build/ext-all.js"></script>
|
||
<script type="text/javascript" src="/projects/sviewer/js/sviewer.js"></script>
|
||
<script type="text/javascript" src="/variation/view/static/js/96fd85bb.vv.js"></script>
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="/variation/view/static/gbc/css/7399fd4e.gb-fix.css" />
|
||
<script type="text/javascript" src="/variation/view/static/gbc/js/1f8be2ad.gbx-fix.js"></script>
|
||
|
||
|
||
|
||
|
||
|
||
</head>
|
||
<body class="gb-browser var-view gb-layout2 generic" >
|
||
|
||
|
||
<a class="usa-skipnav" href="#main_content">Skip to main page content</a>
|
||
|
||
<!-- ========== BEGIN HEADER ========== -->
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button
|
||
class="usa-accordion-button usa-banner-button"
|
||
aria-expanded="false"
|
||
aria-controls="gov-banner-top"
|
||
>
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div
|
||
class="usa-banner-content usa-grid usa-accordion-content"
|
||
id="gov-banner-top"
|
||
>
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
|
||
alt="Dot gov"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it’s official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you’re on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
|
||
alt="Https"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none"
|
||
aria-controls="account_popup">
|
||
<span class="fa fa-user" aria-hidden="true"></span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br/>
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<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>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
<!-- ========== END HEADER ========== -->
|
||
|
||
|
||
|
||
|
||
|
||
<main id="main_content" accesskey="3">
|
||
|
||
|
||
|
||
<div class="gdv-displaybar" style="display:none;">
|
||
<div class="gdv-displaybar-ctrl"><span></span></div>
|
||
<div class="gdv-displaybar-content"></div>
|
||
</div>
|
||
|
||
|
||
<div class="page gb-content-page">
|
||
<div class="header gb-page-header">
|
||
|
||
<div class="gb-header-left">
|
||
|
||
<div>
|
||
|
||
<div class="res_logo">
|
||
<h1 class="res_name">
|
||
<a>Variation Viewer</a>
|
||
</h1>
|
||
<h2 class="res_tagline">Version 3.2</h2>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="gb-header-right">
|
||
|
||
|
||
<div>
|
||
<div class="gb-header-content">
|
||
<div class="gb-header-links-top"></div>
|
||
<div>
|
||
<div class="gb-header-links">
|
||
<ul>
|
||
<li>
|
||
<a href="javascript:void(0)" id="gb-share-page" class="gb-share-page" title="Create URL with the current state that can be shared">Share this page</a>
|
||
</li>
|
||
<li>
|
||
<a href="javascript:void(0)" id="gb-reset-page" class="gb-reset-page" title="Reset saved state">Reset All</a>
|
||
</li>
|
||
<li class="gb-menu">
|
||
<a href="javascript:void(0)">More Info</a>
|
||
<ul style="right:5em">
|
||
<li class="help">
|
||
<a href="/variation/view/help/" target="gvar_help">Help</a>
|
||
</li><li class="help">
|
||
<a href="/variation/view/faq/" target="gvar_help">FAQ</a>
|
||
</li><li class="help">
|
||
<a href="/variation/view/release-notes/" target="gvar_help">Release Notes</a>
|
||
</li>
|
||
</ul>
|
||
</li>
|
||
<li class="help">
|
||
<a class="gb-youtube" href="https://www.youtube.com/watch?v=rnWZ9MFBwUM" title="Watch the Variation Viewer introduction" target="gvar_help" alt="Link to Variation Viewer introduction video on YouTube" role="button" aria-expanded="false" aria-haspopup="true"></a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="gb-state gb-off">
|
||
<div class="gb-state-panel">
|
||
<span class="gb-state-panel-close"></span>
|
||
<div class="gb-state-section">
|
||
<span class="gb-state-header">URL for current configuration</span>
|
||
</div>
|
||
<div class="gb-state-section gb-section-url">
|
||
<span class="gb-state-url"></span>
|
||
</div>
|
||
<div class="gb-state-section">
|
||
<span class="gb-state-comment">This URL is a temporary URL and is valid approximately for 90 days.</span>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<div>
|
||
<div class="gb-page-content-top">
|
||
|
||
<div widget-name="top-bar" class="gb-top-control-bar">
|
||
|
||
|
||
<div class="gb-search-bar gb-search-top gb-hidden">
|
||
<span>
|
||
<div class="gb-header">
|
||
<span>Search assembly</span>
|
||
</div>
|
||
<div class="gb-search-ctrl">
|
||
<label for="loc-search-top" aria-label="Search"></label>
|
||
<input id="loc-search-top" type="text" placeholder=""/ value="rs140597">
|
||
<span class="gb-search-go" aria-label="Search"></span>
|
||
</div>
|
||
<div class="comment">
|
||
<span class="gb-search-help" title="Expand for search examples">Examples</span>
|
||
<ul search-id="loc-search-top"></ul>
|
||
</div>
|
||
</span>
|
||
<div class="gb-search gb-search-content gb-hidden" for="loc-search-top">
|
||
<div class="gb-ctrl">
|
||
<span class="gb-close"></span>
|
||
</div>
|
||
<div class="content-results">
|
||
<ul class="content-tabs"></ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div>
|
||
<span class="gb-org"></span>
|
||
<assembly-wrap>
|
||
<span class="gb-assm">
|
||
<span>Assembly:</span>
|
||
<span class="gb-select">
|
||
<select></select>
|
||
</span>
|
||
</span>
|
||
<span>▪</span>
|
||
<span class="gb-range">
|
||
<span class="gb-select">
|
||
<select></select>
|
||
</span>
|
||
</span>
|
||
</assembly-wrap>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</div>
|
||
<div class="gb-page-content">
|
||
<div class="content-left">
|
||
<div class="gb-region-navigator gb-top">
|
||
|
||
<div section-name="header" class="gb-section ">
|
||
<div class="gb-org"></div>
|
||
<div class="gb-assm"></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div section-name="loc-search-top" class="gb-section gb-search-top ">
|
||
<div>
|
||
<div class="gb-header">
|
||
<span>Search assembly</span>
|
||
</div>
|
||
<div class="gb-search-ctrl">
|
||
<label for="loc-search" aria-label="Search"></label>
|
||
<input id="loc-search" type="text" placeholder="" value="rs140597"/>
|
||
<span class="gb-search-go" aria-label="Search"></span>
|
||
</div>
|
||
<div class="comment">
|
||
<span class="gb-search-help" title="Expand for search examples">Examples</span>
|
||
<ul search-id="loc-search"></ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div section-name="loc-search" for="loc-search" class="gb-section gb-search gb-search-content gb-hidden">
|
||
<div class="gb-section-body">
|
||
<div class="gb-ctrl">
|
||
<span class="gb-close"></span>
|
||
</div>
|
||
<div class="content-results">
|
||
<ul class="content-tabs"></ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div config="showAcc:false" class="gb-section" section-name="ds-selector">
|
||
<h4><span></span><span>Pick Assembly</span></h4>
|
||
<div class="gb-section-body">
|
||
<div class="gb-ds-selector-wrap">
|
||
<div><a href="#" class="gb-ds-selector"></a></div>
|
||
<div class="gb-ds-selector-comment">
|
||
<span class="comment">Select an assembly and annotation to change view</span>
|
||
</div>
|
||
<div class="gb-ds-selector-comment gb-ds-selector-extra"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="gb-section " section-name="user-data">
|
||
|
||
<h4 title="Configure tracks, upload data, add remote tracks or track hubs">
|
||
<span></span>
|
||
<span>Tracks and User Data</span>
|
||
</h4>
|
||
<div class="gb-section-body">
|
||
<div class="gb-user-data">
|
||
<div class="gb-track-sect">
|
||
<span>
|
||
<a class="gb-select gb-menu-empty" href="#menu">- no added tracks or track hubs -</a>
|
||
<a class="gb-menu" href="#menu" role="button">
|
||
<span>Options</span>
|
||
</a>
|
||
</span>
|
||
</div>
|
||
<div class="gb-file-upload gb-upload">
|
||
<div class="gb-track-data">
|
||
<div class="gb-name"></div>
|
||
<div class="gb-track-grid">
|
||
<div class="grid-header">
|
||
<table>
|
||
<thead>
|
||
<tr>
|
||
<th class="gbs-name">Name</th>
|
||
<th class="gbs-location">Location</th>
|
||
<th class="ctrl">
|
||
<span></span>
|
||
</th>
|
||
</tr>
|
||
<tr>
|
||
<th class="gb-acc" colspan="3"></th>
|
||
</tr>
|
||
</thead>
|
||
</table>
|
||
</div>
|
||
<div class="grid-data-wrap">
|
||
<div class="grid-data">
|
||
<table>
|
||
<tbody>
|
||
<tr>
|
||
<td></td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
<div class="grid-ctrl">
|
||
<select>
|
||
<option>chr</option>
|
||
</select>
|
||
<span>
|
||
<input type="image" src="/variation/view/static/img/first-b.png" title="first" alt="first page"/>
|
||
<input type="image" src="/variation/view/static/img/prev-b.png" title="previous" alt="previous page"/>
|
||
<input type="text" id="gb-track-data-page"/>
|
||
<input type="image" src="/variation/view/static/img/next-b.png" title="next" alt="next page"/>
|
||
<input type="image" src="/variation/view/static/img/last-b.png" title="last" alt="last page"/>
|
||
</span>
|
||
</div>
|
||
<div class="grid-ctrl-info">
|
||
<label for="gb-track-data-page">Page 1 of 1</label>
|
||
</div>
|
||
</div>
|
||
<div class="gb-track-info"></div>
|
||
</div>
|
||
<div class="gb-file-progress"></div>
|
||
|
||
<div class="gb-uud-help">
|
||
<style>.gb-data-formats {
|
||
display: table;
|
||
}
|
||
.gb-data-formats li {
|
||
display: table-row;
|
||
}
|
||
.gb-data-formats span,
|
||
.gb-data-formats strong,
|
||
.gb-data-formats a {
|
||
display: table-cell;
|
||
}
|
||
.gb-data-formats strong {
|
||
color: #557;
|
||
white-space: nowrap;
|
||
font-weight: normal;
|
||
}
|
||
.gb-data-formats span {
|
||
padding: .1em .5em;
|
||
}</style>
|
||
<p>
|
||
<span>
|
||
Supported File/Data types
|
||
</span>
|
||
</p>
|
||
<ul>
|
||
<li>Uploaded tracks</li>
|
||
<ul class="gb-data-formats">
|
||
<li><strong>BED</strong>
|
||
</li>
|
||
<li><strong>GFF3</strong>
|
||
</li>
|
||
<li><strong>GTF</strong>
|
||
</li>
|
||
<li><strong>GVF</strong>
|
||
</li>
|
||
<li><strong>VCF</strong>
|
||
</li>
|
||
<li><strong>HGVS</strong>
|
||
</li>
|
||
<li><strong>WIG</strong>
|
||
</li>
|
||
<li><strong>ASN.1</strong><span> (text and binary)</span>
|
||
</li>
|
||
</ul>
|
||
<li>Remote tracks</li>
|
||
<ul class="gb-data-formats">
|
||
<li><strong>Remote BAM</strong><span>.bai or CSI index file present at same location</span>
|
||
</li>
|
||
<li><strong>Remote VCF</strong><span>un-indexed up to 2000 lines or with an index file present at the same location</span>
|
||
</li>
|
||
<li><strong>BigBed</strong>
|
||
</li>
|
||
<li><strong>BigWig</strong>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="gb-section " section-name="gene-history">
|
||
|
||
<h4 title="">
|
||
<span></span>
|
||
<span>History</span>
|
||
</h4>
|
||
<div class="gb-section-body">
|
||
<div class="gb-gene-history">
|
||
<select>
|
||
<option>--- current selection ---</option>
|
||
</select>
|
||
</div>
|
||
<div class="gb-gene-history-comment">
|
||
<span class="comment">Select gene from history</span>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="gb-section " section-name="region-details">
|
||
|
||
<h4 title="">
|
||
<span></span>
|
||
<span>Assembly Region Details</span>
|
||
</h4>
|
||
<div class="gb-section-body gb-region-details">
|
||
<h5>Features of Interest</h5>
|
||
<div class="gb-region-alts gb-none gb-hidden">
|
||
<h6>
|
||
Other sequence representations
|
||
<span class="gb-none">- none for the region</span>
|
||
<span class="gb-info">- loading …</span>
|
||
</h6>
|
||
<div class="gb-data">
|
||
<div class="grid-header">
|
||
<table>
|
||
<tr>
|
||
<th class="gb-name">Sequence ID</th>
|
||
<th>Type</th>
|
||
</tr>
|
||
<tr>
|
||
<td class="gb-row-header" colspan="2"></td>
|
||
</tr>
|
||
</table>
|
||
</div>
|
||
<div class="grid-data">
|
||
<table>
|
||
<tr>
|
||
<td></td>
|
||
</tr>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
<div class="gb-back">Back to region <a href="#back"></a></div>
|
||
</div>
|
||
<div class="gb-region-issues gb-hidden"></div>
|
||
<div class="gb-region-similar gb-hidden"></div>
|
||
<div class="gb-region-details-alt gb-hidden">Not applicable for this organism/assembly</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="content-right">
|
||
|
||
<div widget-name="range-header">
|
||
<div class="gb-range-header"></div>
|
||
</div>
|
||
|
||
|
||
<div widget-name="region-selector">
|
||
<div class="gb-ideo-region-wrap">
|
||
<div class="gb-slider-wrap" title="Right click for help menu">
|
||
<div class="gb-slider"><div></div></div>
|
||
<div class="gb-hair"><div></div></div>
|
||
</div>
|
||
<div class="gb-ideo-region">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div widget-name="exon-navigator">
|
||
<div class="gb-exon-navigator">
|
||
<div class="gb-exon-wrap gb-no-genes gb-no-track gb-hidden">
|
||
<div class="gb-exon-mask-wrap">
|
||
<div class="gb-exon-mask"></div>
|
||
</div>
|
||
<div class="gb-exon-track">
|
||
<span title="Select gene track" class="gb-exon-cell">
|
||
<a href="#" class="gb-exon-track-menu">❖</a>
|
||
</span>
|
||
</div>
|
||
<div class="gb-exon-body">
|
||
<span class="gb-exon-gene-wrap">
|
||
<div class="gb-exon-genes">
|
||
<span class="gb-exon-gene-body">
|
||
<div class="gb-exon-set">
|
||
<span class="gb-exon-cell">
|
||
<a href="#" class="gb-exon-menu gb-menu-mark">Region</a>
|
||
</span>
|
||
<span class="gb-exon-cell gb-exon-gene-set">
|
||
<span class="gb-header">Gene</span>
|
||
<span class="gb-gene-cell">
|
||
<span class="gb-exon-gene-go gb-prev" title="Previous gene"></span>
|
||
<select></select>
|
||
<span class="gb-exon-gene-go gb-next" title="Next gene"></span>
|
||
</span>
|
||
</span>
|
||
</div>
|
||
</span>
|
||
<span class="gb-exon-split"></span>
|
||
</div>
|
||
</span>
|
||
<span class="gb-exon-transcript-wrap">
|
||
<span class="gb-exon-cell gb-exon-transcript-set">
|
||
<span class="gb-header"></span>
|
||
<span class="gb-transcript-cell">
|
||
<select></select>
|
||
</span>
|
||
</span>
|
||
<span class="gb-exon-page-wrap">
|
||
<div class="gb-exon-details-wrap gb-no-print">
|
||
<span class="gb-exon-page-details"></span>
|
||
</div>
|
||
<div class="gb-exon-page-exons gb-no-print">
|
||
<span class="gb-exon-page-go gb-prev" title="Select previous exon"></span>
|
||
<span class="gb-exon-page-go gb-next" title="Select next exon"></span>
|
||
<span class="gb-exon-page">
|
||
<div class="gb-exon-page-body"></div>
|
||
<div class="gb-exon-slider">
|
||
<div></div>
|
||
</div>
|
||
</span>
|
||
</div>
|
||
</span>
|
||
<span class="gb-exon-page-msg">No exons</span>
|
||
</span>
|
||
</div>
|
||
<div class="gb-exon-gene-spare">
|
||
<div>
|
||
<span class="gb-exon-flank gb-left">
|
||
<a href="#" title="Previous gene out of view" class="gb-no-gene"></a>
|
||
</span>
|
||
<span class="gb-exon-msg">Exon Navigator</span>
|
||
<span class="gb-exon-flank gb-right">
|
||
<a href="#" title="Next gene out of view" class="gb-no-gene"></a>
|
||
</span>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="gb-hub-status" widget-name="hub-status">
|
||
<div></div>
|
||
</div>
|
||
|
||
|
||
<div config="appname:'DataViewer', toolbar:'-s'" widget-name="seqview-wrap">
|
||
<div class="seqview-wrap" options="toolbar:'-s'">
|
||
<div></div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="gb-page-content-bottom">
|
||
<div>
|
||
<div class="divider" style="clear:both"></div>
|
||
<div>
|
||
<div widget-name="variation-table" id="variation-view" class="variation-view-wrap">
|
||
<div class="var-view">
|
||
<div id="vdt-container">
|
||
<div class="clearfix"></div>
|
||
<ul><li><a href="#data">Variation Data</a></li></ul>
|
||
<div id="data">
|
||
<div id="vdt-facets" class="gb-section gb-open">
|
||
<h4>Filter by
|
||
<span id="vdt-facets-options">
|
||
<a id="vdt-edit-facets" title="Add or remove facets" href="#">
|
||
<svg>
|
||
<path transform="scale(0.9)" d="M20,14.5v-2.9l-1.8-0.3c-0.1-0.4-0.3-0.8-0.6-1.4l1.1-1.5l-2.1-2.1l-1.5,1.1c-0.5-0.3-1-0.5-1.4-0.6L13.5,5h-2.9l-0.3,1.8 C9.8,6.9,9.4,7.1,8.9,7.4L7.4,6.3L5.3,8.4l1,1.5c-0.3,0.5-0.4,0.9-0.6,1.4L4,11.5v2.9l1.8,0.3c0.1,0.5,0.3,0.9,0.6,1.4l-1,1.5 l2.1,2.1l1.5-1c0.4,0.2,0.9,0.4,1.4,0.6l0.3,1.8h3l0.3-1.8c0.5-0.1,0.9-0.3,1.4-0.6l1.5,1.1l2.1-2.1l-1.1-1.5c0.3-0.5,0.5-1,0.6-1.4 L20,14.5z M12,16c-1.7,0-3-1.3-3-3s1.3-3,3-3s3,1.3,3,3S13.7,16,12,16z"></path>
|
||
</svg>
|
||
|
||
</a>
|
||
</span>
|
||
</h4>
|
||
<div class="gb-section-body"></div>
|
||
</div>
|
||
|
||
<span class="internal-anchor-jig-table" style="display: block;">
|
||
<table id="variation-data-table" style="display: none;">
|
||
<caption></caption>
|
||
<thead><tr>
|
||
<th><a href="#" id="vdt-toggle-all-rows" class="arrow closed" title="Show alleles for all variants"></a></th>
|
||
<th>Variant ID</th>
|
||
<th>Location</th>
|
||
<th>Variant type</th>
|
||
<th>Gene</th>
|
||
<th>Molecular consequences</th>
|
||
<th>Most severe clinical significance</th>
|
||
<th>Alleles</th>
|
||
<th>1000G MAF</th>
|
||
<th>GO-ESP MAF</th>
|
||
<th>ExAC MAF</th>
|
||
<th>Publications</th>
|
||
</tr></thead>
|
||
<tbody></tbody>
|
||
</table>
|
||
</span>
|
||
<div class="clearfix"></div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="gb-data-canvas">
|
||
<span></span>
|
||
<canvas>
|
||
</canvas>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</main>
|
||
|
||
|
||
<!-- ========== BEGIN FOOTER ========== -->
|
||
<footer>
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<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"/>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<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">
|
||
</path>
|
||
</svg></a>
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