5977 lines
No EOL
190 KiB
Text
5977 lines
No EOL
190 KiB
Text
<!DOCTYPE html>
|
||
|
||
|
||
|
||
|
||
<html lang="en" >
|
||
<head >
|
||
<meta charset="UTF-8">
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge">
|
||
|
||
<!-- Mobile properties -->
|
||
<meta name="HandheldFriendly" content="True">
|
||
<meta name="MobileOptimized" content="320">
|
||
<meta name="viewport" content="width=device-width, initial-scale=1.0">
|
||
|
||
|
||
<!-- Stylesheets -->
|
||
|
||
<link href="/snp/static/django_uswds/uswds/css/uswds.css" rel="stylesheet" />
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="/snp/static/nwds/css/nwds.css" />
|
||
<link rel="stylesheet" href="/snp/static/nwds/css/header.css" />
|
||
<link rel="stylesheet" href="/snp/static/nwds/css/footer.css" />
|
||
<link rel="stylesheet" href="/snp/static/nwds/css/form.css" />
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://maxcdn.bootstrapcdn.com/font-awesome/4.7.0/css/font-awesome.min.css"/>
|
||
|
||
|
||
|
||
<title>rs1050829 RefSNP Report - dbSNP - NCBI</title>
|
||
|
||
|
||
|
||
<!-- Favicons -->
|
||
<link rel="shortcut icon" type="image/ico" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
|
||
<link rel="icon" type="image/png" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
|
||
|
||
<!-- 192x192, as recommended for Android
|
||
http://updates.html5rocks.com/2014/11/Support-for-theme-color-in-Chrome-39-for-Android
|
||
-->
|
||
<link rel="icon" type="image/png" sizes="192x192" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
|
||
|
||
<!-- 57x57 (precomposed) for iPhone 3GS, pre-2011 iPod Touch and older Android devices -->
|
||
<link rel="apple-touch-icon-precomposed" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">
|
||
<!-- 72x72 (precomposed) for 1st generation iPad, iPad 2 and iPad mini -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">
|
||
<!-- 114x114 (precomposed) for iPhone 4, 4S, 5 and post-2011 iPod Touch -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
|
||
<!-- 144x144 (precomposed) for iPad 3rd and 4th generation -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png">
|
||
|
||
|
||
|
||
|
||
<link href="https://maxcdn.bootstrapcdn.com/font-awesome/4.6.1/css/font-awesome.min.css"
|
||
rel="stylesheet" type="text/css">
|
||
|
||
<link href="/snp/static/snp2redesign/css/uswds-style-guide.css" rel="stylesheet" type="text/css">
|
||
|
||
<link href="/snp/static/snp2redesign/css/jquery-accessible-tabs.css" rel="stylesheet"
|
||
type="text/css">
|
||
|
||
<link href="/snp/static/snp2redesign/dist/django-snp2.css" rel="stylesheet" type="text/css">
|
||
<!--<link href="/snp/static/snp2redesign/css/home-page.css" rel="stylesheet" type="text/css"> -->
|
||
|
||
<link rel="stylesheet" type="text/css" href="https://cdn.datatables.net/1.10.19/css/jquery.dataTables.min.css">
|
||
<!--<link href="/snp/static/snp2redesign/js/lib/ncbi-datatable/css/ncbi-datatable.scss" rel="stylesheet">-->
|
||
|
||
<script src="https://code.jquery.com/jquery-3.5.0.min.js"></script>
|
||
|
||
<script type="text/javascript" src="https://www.ncbi.nlm.nih.gov/projects/sviewer/js/sviewer.js"></script>
|
||
<style type="text/css" media="print"> body:after { content:url("rs1050829/log/print/"); } </style>
|
||
|
||
<meta name="robots" content="index, follow, archive" />
|
||
<!-- Logging params: Pinger defaults -->
|
||
|
||
<meta name="ncbi_app" content="snp2" />
|
||
|
||
<meta name="ncbi_db" content="snp" />
|
||
|
||
<meta name="ncbi_pdid" content="refsnp_report" />
|
||
|
||
<meta name="ncbi_phid" content="322CE08112680EC50000441010497523.1.m_26" />
|
||
|
||
|
||
<!-- Logging params: Pinger extras -->
|
||
|
||
<meta name="log_category" content="genomes" />
|
||
|
||
<meta name="log_exec_name" content="dj-snp2" />
|
||
|
||
<meta name="log_recordtyp" content="primary_refsnp" />
|
||
|
||
<meta name="log_displayeduids" content="1050829" />
|
||
|
||
<meta name="log_source_db" content="rs_snp2" />
|
||
|
||
<meta name="log_op" content="retrieve" />
|
||
|
||
|
||
|
||
|
||
<script type="application/ld+json">
|
||
{
|
||
"@context" : "http://schema.org",
|
||
"@type" : "Dataset",
|
||
"name" : "rs1050829",
|
||
"description" : "SNV-Single Nucleotide Variation",
|
||
"version" : "Build 157",
|
||
"license" : "Open Access",
|
||
"distribution" : {
|
||
"@type" : "DataDownload",
|
||
"encodingFormat" : "JSON",
|
||
"contentUrl" : "https://api.ncbi.nlm.nih.gov/variation/v0/refsnp/1050829"
|
||
},
|
||
"about": {
|
||
"@type" : "Thing",
|
||
"description":"Alleles: T>A / T>C"
|
||
},
|
||
"sourceOrganization" : "dbSNP",
|
||
"datePublished" : "September 3, 2024"
|
||
}
|
||
</script>
|
||
|
||
|
||
|
||
|
||
</head>
|
||
<body >
|
||
|
||
|
||
<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 ========== -->
|
||
|
||
|
||
|
||
|
||
|
||
<div id="main_content" class="ncbi-base-page-container">
|
||
<div class="sub-header">
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-half">
|
||
<h1><a data-section="Header" data-ga-action="Click-on"
|
||
data-ga-label="dbSNP Short Genetic Variations"
|
||
ref="section=Header&action=Click-on&label=dbSNP Short Genetic Variations"
|
||
href="/snp/">dbSNP</a>
|
||
<span class="uswds-gray tagline">Short Genetic Variations</span>
|
||
</h1>
|
||
</div>
|
||
<div class="usa-width-one-half">
|
||
<form name="submitSearchTerm" class="usa-search"
|
||
action="/snp/" method="get">
|
||
<div role="search">
|
||
<label class="usa-sr-only" for="search-field">Search for Ref SNP by id</label>
|
||
<input id="search-field" type="search" name="term" placeholder="Search for terms"
|
||
required="required" title="Examples: rs268, BRCA1">
|
||
<button type="submit">
|
||
<span class="usa-search-submit-text">Search</span>
|
||
</button>
|
||
<span id="string-msg">Examples: rs268, BRCA1 and <a href="/snp/docs/entrez_help/">more</a></span>
|
||
<a href="/snp/advanced/" class="advanced-search">Advanced search</a>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<main class="usa-grid">
|
||
<div class="usa-grid-full">
|
||
<div class="usa-row clearfix">
|
||
<div class="usa-alert usa-alert-info">
|
||
<div class="usa-alert-body">
|
||
<h3 class="usa-alert-heading">Welcome to the Reference SNP (rs) Report</h3>
|
||
<p class="usa-alert-text">All alleles are reported in the <a href="https://www.ncbi.nlm.nih.gov/core/assets/snp/docs/RefSNP_orientation_updates.pdf" target="_blank"
|
||
data-ga-action="Click for forward orientation" data-ga-category="Info panel"
|
||
data-ga-label="Forward orientation">Forward orientation</a>. Click on the
|
||
<a href="#variant_details" id="variantlink"
|
||
data-ga-action="Click for variant details" data-ga-category="Info panel"
|
||
data-ga-label="Forward orientation">Variant Details tab</a> for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the
|
||
<a href="#hgvs_tab" id="hgvslink"
|
||
data-ga-action="Click for aliases tab" data-ga-category="Info panel"
|
||
data-ga-label="HGVS tab">HGVS tab</a>.</p>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="usa-width-one-half">
|
||
<h3>Reference SNP (rs) Report</h3>
|
||
</div>
|
||
<div class="usa-width-one-half">
|
||
<ul class="utilities usa-unstyled-list align-right">
|
||
<li title="Download in API JSON format"><a href="https://api.ncbi.nlm.nih.gov/variation/v0/refsnp/1050829"
|
||
data-section="Main" data-ga-action="Click-on" data-ga-label="main_download_btn"
|
||
ref="section=Main&action=Click-on&label=main_download_btn">
|
||
<i class="fa fa-download" aria-hidden="true"></i> Download</a></li>
|
||
|
||
|
||
|
||
|
||
<li>
|
||
<a class="btn share fbshare" aria-haspopup="true" target="_blank" href='https://www.facebook.com/sharer/sharer.php?u=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fsnp%2Frs1050829'>
|
||
<img src="/snp/static/snp2redesign/images/fb.png" alt="Share on Facebook" class="svg" />
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a class="btn share twittershare" aria-haspopup="true" target="_blank" href='https://twitter.com/intent/tweet?url=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fsnp%2Frs1050829'>
|
||
<img src="/snp/static/snp2redesign/images/twitter.png" alt="Share on Twitter" class="svg" />
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a class="btn share gplusshare" aria-haspopup="true" target="_blank" href='https://plus.google.com/share?url=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fsnp%2Frs1050829'>
|
||
<img src="/snp/static/snp2redesign/images/gplus.png" alt="Share on Google+" class="svg" />
|
||
</a>
|
||
</li>
|
||
|
||
<li><a data-width="640px" href="#main_tp" data-section="Main"
|
||
data-ga-action="Click-on-Tooltip" data-ga-label="main_tp"
|
||
class="fa fa-question-circle ncbiPopper" id="mainhelp_tooltip"
|
||
ref="section=Main&action=Click-on-Tooltip&label=main_tp"><span class="usa-sr-only">Help</span></a>
|
||
</li>
|
||
</ul>
|
||
<p id="main_tp">
|
||
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.<br/>
|
||
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.<br/>
|
||
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. <br/>
|
||
For more information see <a class="external-link" href="/snp/docs/refsnp_report/helpdoc"> Help documentation</a>.</p>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="usa-grid-full clearfix">
|
||
<div class="usa-width-two-thirds">
|
||
<div class="blue-box">
|
||
<h2 id="refsnp_id">rs1050829</h2>
|
||
</div>
|
||
</div>
|
||
<div class="accession usa-width-one-third">
|
||
<p>Current Build <span>157</span></p>
|
||
<p>Released <span>
|
||
|
||
September 3, 2024
|
||
|
||
</span></p>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="summary-box usa-grid-full">
|
||
<dl class="usa-width-one-half">
|
||
|
||
<dt>Organism</dt>
|
||
<dd class="species_name">Homo sapiens</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Position</dt>
|
||
<dd>
|
||
|
||
<span>chrX:154535277 </span><span>(GRCh38.p14) </span><a data-width="640px" href="#pos_tp"
|
||
ref="section=Summary&action=Click-on-Tooltip&label=pos_tp"
|
||
data-section="Summary" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="pos_tp" class="fa fa-question-circle ncbiPopper" id="position_tooltip"><span class="usa-sr-only">Help</span></a><p id="pos_tp">The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See <a href="/snp/docs/refsnp_report/helpdoc/">here</a> for details.</p>
|
||
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Alleles</dt>
|
||
<dd>
|
||
|
||
|
||
T>A / T>C
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
SNV
|
||
|
||
|
||
|
||
<span class="small-font gray">Single Nucleotide Variation</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div>
|
||
C=0.010973
|
||
(1435/130772, ALFA)
|
||
</div><div>
|
||
C=0.0982
|
||
(472/4805, 1000G_30X)
|
||
</div><span>
|
||
C=0.0946 (357/3775, 1000G)
|
||
</span><span>(<a id="expandfrequency" data-freq-remn="5"
|
||
data-is-icon="false" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Frequency" data-targets="#remn_summ_freq" href="#remn_summ_freq"
|
||
ref="section=Summary&action=Click-on&label=Frequency">+ 5 more</a>)</span><div class="ui-widget hide_elm" id="remn_summ_freq"><div>
|
||
C=0.0008
|
||
(3/3708, TWINSUK)
|
||
</div><div>
|
||
C=0.0003
|
||
(1/2889, ALSPAC)
|
||
</div><div>
|
||
C=0.046
|
||
(5/108, Qatari)
|
||
</div><div>
|
||
C=0.00
|
||
(0/52, Ancient Sardinia)
|
||
</div><div>
|
||
T=0.10
|
||
(2/20, SGDP_PRJ)
|
||
</div></div>
|
||
|
||
</dd>
|
||
|
||
</dl>
|
||
<dl class="usa-width-one-half">
|
||
|
||
<dt>Clinical Significance</dt>
|
||
<dd>
|
||
|
||
Reported in <a target="_blank" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Reported in ClinVar"
|
||
ref="section=Summary&action=Click-on&label=Reported in ClinVar"
|
||
href="/clinvar?term=((1526181[AlleleID])OR(25399[AlleleID]))">ClinVar</a>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Gene : Consequence</dt>
|
||
<dd>
|
||
|
||
<span>G6PD : Missense Variant</span>
|
||
|
||
</dd>
|
||
|
||
<dt>Publications</dt>
|
||
<dd>
|
||
|
||
<a id="snp_pub_count" href="#publications">47
|
||
citations
|
||
</a>
|
||
|
||
</dd>
|
||
|
||
|
||
<dt>Genomic View</dt>
|
||
<dd>
|
||
<a href="#seq_hash" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Genomic View See rs on genome"
|
||
ref="section=Summary&action=Click-on&label=Genomic View See rs on genome">See rs on
|
||
genome</a>
|
||
</dd>
|
||
|
||
</dl>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="js-tabs">
|
||
<ul class="js-tablist" data-section="Tab">
|
||
|
||
<li class="js-tablist__item">
|
||
<a href="#frequency_tab" ref="section=Tab&action=Click-on&label=Frequency"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Frequency" id="label_id_third"
|
||
class="js-tablist__link">Frequency
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
|
||
<li class="js-tablist__item">
|
||
<a href="#variant_details" ref="section=Tab&action=Click-on&label=Variant Details"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Variant Details" id="label_id_first"
|
||
class="js-tablist__link">Variant Details
|
||
<span class="js-tablist__item-has-focus" aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#clinical_significance"
|
||
ref="section=Tab&action=Click-on&label=Clinical Significance"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Clinical Significance" id="label_id_second"
|
||
class="js-tablist__link">Clinical
|
||
Significance
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#hgvs_tab" ref="section=Tab&action=Click-on&label=HGVS"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="HGVS" id="label_id_fourth"
|
||
class="js-tablist__link">HGVS
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#submissions" ref="section=Tab&action=Click-on&label=Submissions"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Submissions" id="label_id_fifth"
|
||
class="js-tablist__link">Submissions
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#history" ref="section=Tab&action=Click-on&label=History"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="History" id="label_id_sixth"
|
||
class="js-tablist__link">History
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#publications" ref="section=Tab&action=Click-on&label=Publications"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Publications" id="label_id_seventh"
|
||
class="js-tablist__link">Publications
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#flanks" ref="section=Tab&action=Click-on&label=Flanks"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Flanks" id="label_id_eighth"
|
||
class="js-tablist__link">Flanks
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
|
||
</ul>
|
||
<div id="frequency_tab" class="js-tabcontent">
|
||
|
||
|
||
|
||
|
||
|
||
<a data-width="640px" href="#popfreq_tp"
|
||
ref="section=Frequency&action=Click-on-Popper&label=popfreq_tp"
|
||
data-section="Frequency" data-ga-action="Click-on-Popper"
|
||
data-ga-label="popfreq_tp" >
|
||
</a>
|
||
<p id="popfreq_tp">
|
||
<font size="5" color="blue"><strong><a href="/snp/docs/gsr/alfa" rel="nofollow" target="_blank">ALFA Allele Frequency</a></strong></font><br/>
|
||
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project <a href="/snp/docs/gsr/alfa" rel="nofollow" target="_blank">page</a> including descriptions, data access, and terms of use.
|
||
|
||
</p>
|
||
|
||
<div>
|
||
<span class="build_id_container"><span class="build_id_label">Release Version:</span> 20231103111315</span>
|
||
</div>
|
||
|
||
<div id="popfreq_table" data-section="PopFrequency" data-ga-action="ScrollPopFrequency" data-ga-label="popfreq" class="popfreq_table">
|
||
<table id="popfreq_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th title="Continental population name">Population</th>
|
||
<th title="Global (total) and sub-populations">Group</th>
|
||
<th title="Total allele counts by population">Sample Size</th>
|
||
<th title="Reference assembly allele">Ref Allele</th>
|
||
<th title="Alternate allele">Alt Allele</th>
|
||
<th title="Reference Homozygous genotype Frequency">Ref HMOZ</th>
|
||
<th title="Alternate Homozygous genotype Frequency">Alt HMOZ</th>
|
||
<th title="Heterozygous genotype Frequency">HTRZ</th>
|
||
<th title="-Log(HWE Probability)">HWEP</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492705">Total</a>
|
||
|
||
</td>
|
||
<td>Global</td>
|
||
<td class="samp_s">130772</td>
|
||
<td class="popfreq_ref_allele">T=0.989027</td>
|
||
<td class="popfreq_alt_allele">A=0.000000, C=0.010973</td>
|
||
<td class="popfreq_alt_allele">0.98281</td>
|
||
<td class="popfreq_alt_allele">0.004756</td>
|
||
<td class="popfreq_alt_allele">0.012434</td>
|
||
<td class="popfreq_alt_allele">32</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492695">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">114918</td>
|
||
<td class="popfreq_ref_allele">T=0.999417</td>
|
||
<td class="popfreq_alt_allele">A=0.000000, C=0.000583</td>
|
||
<td class="popfreq_alt_allele">0.999025</td>
|
||
<td class="popfreq_alt_allele">0.000191</td>
|
||
<td class="popfreq_alt_allele">0.000783</td>
|
||
<td class="popfreq_alt_allele">32</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492703">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">6124</td>
|
||
<td class="popfreq_ref_allele">T=0.7921</td>
|
||
<td class="popfreq_alt_allele">A=0.0000, C=0.2079</td>
|
||
<td class="popfreq_alt_allele">0.675376</td>
|
||
<td class="popfreq_alt_allele">0.091117</td>
|
||
<td class="popfreq_alt_allele">0.233508</td>
|
||
<td class="popfreq_alt_allele">32</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492696">African Others</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">210</td>
|
||
<td class="popfreq_ref_allele">T=0.724</td>
|
||
<td class="popfreq_alt_allele">A=0.000, C=0.276</td>
|
||
<td class="popfreq_alt_allele">0.590476</td>
|
||
<td class="popfreq_alt_allele">0.142857</td>
|
||
<td class="popfreq_alt_allele">0.266667</td>
|
||
<td class="popfreq_alt_allele">7</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492698">African American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">5914</td>
|
||
<td class="popfreq_ref_allele">T=0.7946</td>
|
||
<td class="popfreq_alt_allele">A=0.0000, C=0.2054</td>
|
||
<td class="popfreq_alt_allele">0.67839</td>
|
||
<td class="popfreq_alt_allele">0.08928</td>
|
||
<td class="popfreq_alt_allele">0.23233</td>
|
||
<td class="popfreq_alt_allele">32</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492704">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3348</td>
|
||
<td class="popfreq_ref_allele">T=1.0000</td>
|
||
<td class="popfreq_alt_allele">A=0.0000, C=0.0000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492697">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2690</td>
|
||
<td class="popfreq_ref_allele">T=1.0000</td>
|
||
<td class="popfreq_alt_allele">A=0.0000, C=0.0000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492701">Other Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">658</td>
|
||
<td class="popfreq_ref_allele">T=1.000</td>
|
||
<td class="popfreq_alt_allele">A=0.000, C=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">432</td>
|
||
<td class="popfreq_ref_allele">T=0.954</td>
|
||
<td class="popfreq_alt_allele">A=0.000, C=0.046</td>
|
||
<td class="popfreq_alt_allele">0.930556</td>
|
||
<td class="popfreq_alt_allele">0.023148</td>
|
||
<td class="popfreq_alt_allele">0.046296</td>
|
||
<td class="popfreq_alt_allele">26</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">908</td>
|
||
<td class="popfreq_ref_allele">T=0.990</td>
|
||
<td class="popfreq_alt_allele">A=0.000, C=0.010</td>
|
||
<td class="popfreq_alt_allele">0.984581</td>
|
||
<td class="popfreq_alt_allele">0.004405</td>
|
||
<td class="popfreq_alt_allele">0.011013</td>
|
||
<td class="popfreq_alt_allele">32</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">274</td>
|
||
<td class="popfreq_ref_allele">T=1.000</td>
|
||
<td class="popfreq_alt_allele">A=0.000, C=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN11605645">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4768</td>
|
||
<td class="popfreq_ref_allele">T=0.9862</td>
|
||
<td class="popfreq_alt_allele">A=0.0000, C=0.0138</td>
|
||
<td class="popfreq_alt_allele">0.978188</td>
|
||
<td class="popfreq_alt_allele">0.005872</td>
|
||
<td class="popfreq_alt_allele">0.01594</td>
|
||
<td class="popfreq_alt_allele">32</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
<br/>
|
||
<br/>
|
||
</div>
|
||
|
||
|
||
<a data-width="640px" href="#frequency_tp"
|
||
ref="section=Frequency&action=Click-on-Tooltip&label=frequency_tp"
|
||
data-section="Frequency" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="frequency_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="frequency_tp">
|
||
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
|
||
</p>
|
||
|
||
|
||
|
||
|
||
<a href="/snp/rs1050829/download/frequency">
|
||
<i class="fa fa-download" aria-hidden="true"></i> Download</a>
|
||
<div id="dbsnp_freq_table">
|
||
<table id="dbsnp_freq_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th class="study_header">Study</th>
|
||
<th class="population_header">Population</th>
|
||
<th>Group</th>
|
||
<th>Sample Size</th>
|
||
<th>Ref Allele</th>
|
||
<th>Alt Allele</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492705">Total</a>
|
||
|
||
</td>
|
||
<td>Global</td>
|
||
<td class="samp_s">130772</td>
|
||
<td>T=0.989027</td>
|
||
<td>A=0.000000, C=0.010973</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492695">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">114918</td>
|
||
<td>T=0.999417</td>
|
||
<td>A=0.000000, C=0.000583</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492703">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">6124</td>
|
||
<td>T=0.7921</td>
|
||
<td>A=0.0000, C=0.2079</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN11605645">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4768</td>
|
||
<td>T=0.9862</td>
|
||
<td>A=0.0000, C=0.0138</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492704">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3348</td>
|
||
<td>T=1.0000</td>
|
||
<td>A=0.0000, C=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">908</td>
|
||
<td>T=0.990</td>
|
||
<td>A=0.000, C=0.010</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">432</td>
|
||
<td>T=0.954</td>
|
||
<td>A=0.000, C=0.046</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">274</td>
|
||
<td>T=1.000</td>
|
||
<td>A=0.000, C=0.000</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB31736">1000Genomes_30X</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07490465">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">4805</td>
|
||
<td>T=0.9018</td>
|
||
<td>C=0.0982</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB31736">1000Genomes_30X</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486022">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1328</td>
|
||
<td>T=0.6627</td>
|
||
<td>C=0.3373</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB31736">1000Genomes_30X</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488239">Europe</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">961</td>
|
||
<td>T=0.996</td>
|
||
<td>C=0.004</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB31736">1000Genomes_30X</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486027">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">883</td>
|
||
<td>T=1.000</td>
|
||
<td>C=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB31736">1000Genomes_30X</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486024">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">878</td>
|
||
<td>T=1.000</td>
|
||
<td>C=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB31736">1000Genomes_30X</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488242">American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">755</td>
|
||
<td>T=0.974</td>
|
||
<td>C=0.026</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB6930">1000Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07490465">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">3775</td>
|
||
<td>T=0.9054</td>
|
||
<td>C=0.0946</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB6930">1000Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486022">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1003</td>
|
||
<td>T=0.6620</td>
|
||
<td>C=0.3380</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB6930">1000Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488239">Europe</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">766</td>
|
||
<td>T=0.996</td>
|
||
<td>C=0.004</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB6930">1000Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486024">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">764</td>
|
||
<td>T=1.000</td>
|
||
<td>C=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB6930">1000Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486027">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">718</td>
|
||
<td>T=1.000</td>
|
||
<td>C=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB6930">1000Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488242">American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">524</td>
|
||
<td>T=0.971</td>
|
||
<td>C=0.029</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB7218">UK 10K study - Twins</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
TWIN COHORT
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">3708</td>
|
||
<td>T=0.9992</td>
|
||
<td>C=0.0008</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB7217">The Avon Longitudinal Study of Parents and Children</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
PARENT AND CHILD COHORT
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">2889</td>
|
||
<td>T=0.9997</td>
|
||
<td>C=0.0003</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA288297">Qatari</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13019808">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">108</td>
|
||
<td>T=0.954</td>
|
||
<td>C=0.046</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB36033">Ancient Sardinia genome-wide 1240k capture data generation and analysis</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN15458807">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">52</td>
|
||
<td>T=1.00</td>
|
||
<td>C=0.00</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA586841">SGDP_PRJ</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">20</td>
|
||
<td>T=0.10</td>
|
||
<td>C=0.90</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
<div id="variant_details" class="js-tabcontent">
|
||
<a data-width="640px" href="#variant_details_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=variant_details_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="variant_details_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="variant_details_tp">
|
||
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with <a class="external-link" href="/variation/docs/glossary/#MolCon" rel="nofollow" target="_blank">molecular consequences</a> from <a class="external-link" href="http://www.sequenceontology.org/" rel="nofollow" target="_blank">Sequence Ontology</a>. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.</p>
|
||
|
||
|
||
|
||
|
||
<div>
|
||
|
||
<div class="sect_heading">Genomic Placements</div>
|
||
<div id="gene_plac_allele">
|
||
<!-- display class is a short-cut for specifying the stripe hover order-column
|
||
row-border as the class name for a table -->
|
||
<table id="genomics_placements_table" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Sequence name</th>
|
||
<th>Change</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr X</td>
|
||
<td>NC_000023.11:g.154535277T>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr X</td>
|
||
<td>NC_000023.11:g.154535277T>C</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr X fix patch HG1497_PATCH</td>
|
||
<td>NW_003871103.3:g.1969256T>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr X fix patch HG1497_PATCH</td>
|
||
<td>NW_003871103.3:g.1969256T>C</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>G6PD RefSeqGene</td>
|
||
<td>NG_009015.2:g.17296A>T</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>G6PD RefSeqGene</td>
|
||
<td>NG_009015.2:g.17296A>G</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr X</td>
|
||
<td>NC_000023.10:g.153763492T>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr X</td>
|
||
<td>NC_000023.10:g.153763492T>C</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
|
||
|
||
<div id="trans_anno_allele">
|
||
|
||
|
||
|
||
<div class="sect_heading">
|
||
Gene: <a target="_blank" data-section="Variant Details"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="transcript_annotation_gene_link"
|
||
ref="section=Variant Details&action=Click-on&label=transcript_annotation_gene_link"
|
||
href="/gene/2539">G6PD</a>, glucose-6-phosphate dehydrogenase
|
||
(minus strand)
|
||
|
||
</div>
|
||
<table class="trans_anno_allele_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Molecule type</th>
|
||
<th>Change</th>
|
||
<th>Amino acid[Codon]</th>
|
||
<th>SO Term</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr class="vard_odd">
|
||
<td>G6PD transcript variant 1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000402.4:c.466A>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">N [</span><span class="codon-hilite">A</span><span class="codon-ghost">AT</span><span class="codon-plain">] > Y [</span><span class="codon-hilite">T</span><span class="codon-ghost">AT</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>glucose-6-phosphate 1-dehydrogenase isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000393.4:p.Asn156Tyr
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
N (Asn) > Y (Tyr)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>G6PD transcript variant 1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000402.4:c.466A>G
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">N [</span><span class="codon-hilite">A</span><span class="codon-ghost">AT</span><span class="codon-plain">] > D [</span><span class="codon-hilite">G</span><span class="codon-ghost">AT</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>glucose-6-phosphate 1-dehydrogenase isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000393.4:p.Asn156Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
N (Asn) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>G6PD transcript variant 3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001360016.2:c.376A>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">N [</span><span class="codon-hilite">A</span><span class="codon-ghost">AT</span><span class="codon-plain">] > Y [</span><span class="codon-hilite">T</span><span class="codon-ghost">AT</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>glucose-6-phosphate 1-dehydrogenase isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001346945.1:p.Asn126Tyr
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
N (Asn) > Y (Tyr)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>G6PD transcript variant 3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001360016.2:c.376A>G
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">N [</span><span class="codon-hilite">A</span><span class="codon-ghost">AT</span><span class="codon-plain">] > D [</span><span class="codon-hilite">G</span><span class="codon-ghost">AT</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>glucose-6-phosphate 1-dehydrogenase isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001346945.1:p.Asn126Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
N (Asn) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>G6PD transcript variant 2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001042351.3:c.376A>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">N [</span><span class="codon-hilite">A</span><span class="codon-ghost">AT</span><span class="codon-plain">] > Y [</span><span class="codon-hilite">T</span><span class="codon-ghost">AT</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>glucose-6-phosphate 1-dehydrogenase isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001035810.1:p.Asn126Tyr
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
N (Asn) > Y (Tyr)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>G6PD transcript variant 2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001042351.3:c.376A>G
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">N [</span><span class="codon-hilite">A</span><span class="codon-ghost">AT</span><span class="codon-plain">] > D [</span><span class="codon-hilite">G</span><span class="codon-ghost">AT</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>glucose-6-phosphate 1-dehydrogenase isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001035810.1:p.Asn126Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
N (Asn) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div id="clinical_significance" class="js-tabcontent">
|
||
<div>
|
||
<a data-width="640px" href="#clin_sig_tp"
|
||
ref="section=Clinical Significance&action=Click-on-Tooltip&label=clinical_significance_tp"
|
||
data-section="Clinical Significance" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="clinical_significance_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="clin_sig_tp">
|
||
Clinical Significance tab shows a list of <a class="external-link" href="/clinvar/docs/clinsig" rel="nofollow" target="_blank">clinical significance </a>entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. <a href="/clinvar/RCV000001615.2" rel="nofollow" target="_blank">RCV000001615.2</a>) or Allele ID (i.e. <a href="/clinvar/variation/12274/" rel="nofollow" target="_blank">12274</a>) to access full ClinVar report.</p>
|
||
|
||
|
||
|
||
|
||
<div class="sect_heading">Allele: A (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(1526181[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
1526181
|
||
</a>)
|
||
</div>
|
||
|
||
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
|
||
<thead>
|
||
<tr>
|
||
<th>ClinVar Accession</th>
|
||
<th>Disease Names</th>
|
||
<th>Clinical Significance</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002170707.10">RCV002170707.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Conflicting-Interpretations-Of-Pathogenicity</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
<div class="sect_heading">Allele: C (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(25399[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
25399
|
||
</a>)
|
||
</div>
|
||
|
||
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
|
||
<thead>
|
||
<tr>
|
||
<th>ClinVar Accession</th>
|
||
<th>Disease Names</th>
|
||
<th>Clinical Significance</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000011073.15">RCV000011073.15</a>
|
||
</td>
|
||
<td>G6PD A+</td>
|
||
<td>Other</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000011075.24">RCV000011075.24</a>
|
||
</td>
|
||
<td>G6PD deficiency</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000011109.13">RCV000011109.13</a>
|
||
</td>
|
||
<td>G6PD SANTAMARIA</td>
|
||
<td>Other</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000079405.47">RCV000079405.47</a>
|
||
</td>
|
||
<td>not provided</td>
|
||
<td>Conflicting-Interpretations-Of-Pathogenicity</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000178823.32">RCV000178823.32</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Conflicting-Interpretations-Of-Pathogenicity</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000307631.13">RCV000307631.13</a>
|
||
</td>
|
||
<td>G6PD deficiency</td>
|
||
<td>Likely-Benign</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000477820.9">RCV000477820.9</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000999876.11">RCV000999876.11</a>
|
||
</td>
|
||
<td>not specified</td>
|
||
<td>Likely-Benign</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001095678.10">RCV001095678.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001267359.12">RCV001267359.12</a>
|
||
</td>
|
||
<td>Inborn genetic diseases</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001375611.12">RCV001375611.12</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305425.11">RCV002305425.11</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Likely-Pathogenic-Established-Risk-Allele</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305432.10">RCV002305432.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305707.10">RCV002305707.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305727.10">RCV002305727.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305732.10">RCV002305732.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305803.10">RCV002305803.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Uncertain-Significance</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305807.10">RCV002305807.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Uncertain-Significance</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305808.10">RCV002305808.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Uncertain-Significance</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305836.10">RCV002305836.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002305857.10">RCV002305857.10</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="hgvs_tab" class="js-tabcontent">
|
||
<a data-width="640px" href="#aliases_tp"
|
||
ref="section=HGVS&action=Click-on-Tooltip&label=aliases_tp"
|
||
data-section="HGVS" data-ga-action="Click-on-Tooltip" data-ga-label="aliases_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="aliases_tp">
|
||
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. <a href="http://varnomen.hgvs.org/">HGVS name</a> is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".</p>
|
||
|
||
<div id="hgvs">
|
||
<table id="alliases_alleles_datatable" class="stripe">
|
||
<thead class="allele_wrap">
|
||
<tr>
|
||
<th>Placement</th>
|
||
|
||
<th>
|
||
T=
|
||
</th>
|
||
|
||
<th>
|
||
A
|
||
</th>
|
||
|
||
<th>
|
||
C
|
||
</th>
|
||
|
||
</tr>
|
||
</thead>
|
||
<tbody class="allele_wrap">
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh38.p14 chr X
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.11:g.154535277=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.11:g.154535277T>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.11:g.154535277T>C
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr X fix patch HG1497_PATCH
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NW_003871103.3:g.1969256=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NW_003871103.3:g.1969256T>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NW_003871103.3:g.1969256T>C
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD RefSeqGene
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_009015.2:g.17296=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_009015.2:g.17296A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_009015.2:g.17296A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.4:c.466=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.4:c.466A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.4:c.466A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.3:c.466=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.3:c.466A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.3:c.466A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.3:c.376=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.3:c.376A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.3:c.376A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.2:c.376=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.2:c.376A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.2:c.376A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.1:c.376=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.1:c.376A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.1:c.376A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 3
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.2:c.376=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.2:c.376A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.2:c.376A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.1:c.376=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.1:c.376A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.1:c.376A>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr X
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.10:g.153763492=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.10:g.153763492T>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.10:g.153763492T>C
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
glucose-6-phosphate 1-dehydrogenase isoform a
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000393.4:p.Asn156=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000393.4:p.Asn156Tyr
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000393.4:p.Asn156Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
glucose-6-phosphate 1-dehydrogenase isoform b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001035810.1:p.Asn126=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001035810.1:p.Asn126Tyr
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001035810.1:p.Asn126Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
glucose-6-phosphate 1-dehydrogenase isoform b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001346945.1:p.Asn126=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001346945.1:p.Asn126Tyr
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001346945.1:p.Asn126Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div id="submissions" class="js-tabcontent">
|
||
<a data-width="640px" href="#submissions_tp"
|
||
ref="section=Submissions&action=Click-on-Tooltip&label=submissions_tp"
|
||
data-section="Submissions" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="submissions_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="submissions_tp">
|
||
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs).
|
||
We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time.
|
||
Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
|
||
</p>
|
||
|
||
|
||
<div class="sect_heading">
|
||
|
||
68 SubSNP,
|
||
|
||
16 Frequency,
|
||
|
||
22 ClinVar
|
||
submissions
|
||
</div>
|
||
<div id="submission">
|
||
<table id="submission_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>No</th>
|
||
<th>Submitter</th>
|
||
<th>Submission ID</th>
|
||
<th>Date (Build)</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr >
|
||
<td>1</td>
|
||
<td>
|
||
|
||
LEE
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1525831">ss1525831</a>
|
||
|
||
</td>
|
||
<td>Oct 05, 2000
|
||
(86)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</td>
|
||
<td>
|
||
|
||
WICVAR
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3177126">ss3177126</a>
|
||
|
||
</td>
|
||
<td>Aug 15, 2001
|
||
(102)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>3</td>
|
||
<td>
|
||
|
||
SC_JCM
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3526371">ss3526371</a>
|
||
|
||
</td>
|
||
<td>Sep 28, 2001
|
||
(100)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>4</td>
|
||
<td>
|
||
|
||
LEE
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss4416360">ss4416360</a>
|
||
|
||
</td>
|
||
<td>May 29, 2002
|
||
(106)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</td>
|
||
<td>
|
||
|
||
CSHL-HAPMAP
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss18052006">ss18052006</a>
|
||
|
||
</td>
|
||
<td>Feb 27, 2004
|
||
(120)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>6</td>
|
||
<td>
|
||
|
||
SEQUENOM
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss24796045">ss24796045</a>
|
||
|
||
</td>
|
||
<td>Sep 20, 2004
|
||
(123)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</td>
|
||
<td>
|
||
|
||
ABI
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss43577126">ss43577126</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</td>
|
||
<td>
|
||
|
||
CORNELL
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss86241800">ss86241800</a>
|
||
|
||
</td>
|
||
<td>Mar 23, 2008
|
||
(129)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</td>
|
||
<td>
|
||
|
||
SNP500CANCER
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss105436778">ss105436778</a>
|
||
|
||
</td>
|
||
<td>Feb 04, 2009
|
||
(130)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>10</td>
|
||
<td>
|
||
|
||
1000GENOMES
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss115337861">ss115337861</a>
|
||
|
||
</td>
|
||
<td>Jan 25, 2009
|
||
(130)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>11</td>
|
||
<td>
|
||
|
||
SEATTLESEQ
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss159746045">ss159746045</a>
|
||
|
||
</td>
|
||
<td>Dec 01, 2009
|
||
(131)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>12</td>
|
||
<td>
|
||
|
||
COMPLETE_GENOMICS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss165817158">ss165817158</a>
|
||
|
||
</td>
|
||
<td>Jul 04, 2010
|
||
(132)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>13</td>
|
||
<td>
|
||
|
||
OMICIA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss244239872">ss244239872</a>
|
||
|
||
</td>
|
||
<td>Aug 29, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>14</td>
|
||
<td>
|
||
|
||
OMIM-CURATED-RECORDS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss289479822">ss289479822</a>
|
||
|
||
</td>
|
||
<td>Jan 06, 2011
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>15</td>
|
||
<td>
|
||
|
||
1000GENOMES
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss341909269">ss341909269</a>
|
||
|
||
</td>
|
||
<td>May 09, 2011
|
||
(134)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>16</td>
|
||
<td>
|
||
|
||
NHLBI-ESP
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss342562465">ss342562465</a>
|
||
|
||
</td>
|
||
<td>May 09, 2011
|
||
(134)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>17</td>
|
||
<td>
|
||
|
||
1000GENOMES
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss491206105">ss491206105</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>18</td>
|
||
<td>
|
||
|
||
EXOME_CHIP
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss491580926">ss491580926</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>19</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss535323435">ss535323435</a>
|
||
|
||
</td>
|
||
<td>Sep 11, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>20</td>
|
||
<td>
|
||
|
||
TISHKOFF
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss567108039">ss567108039</a>
|
||
|
||
</td>
|
||
<td>Apr 25, 2013
|
||
(138)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>21</td>
|
||
<td>
|
||
|
||
JMKIDD_LAB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1067612240">ss1067612240</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>22</td>
|
||
<td>
|
||
|
||
1000GENOMES
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1556698416">ss1556698416</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>23</td>
|
||
<td>
|
||
|
||
EVA_UK10K_ALSPAC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1641785229">ss1641785229</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>24</td>
|
||
<td>
|
||
|
||
EVA_UK10K_TWINSUK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1684779262">ss1684779262</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>25</td>
|
||
<td>
|
||
|
||
EVA_EXAC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1694662810">ss1694662810</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>26</td>
|
||
<td>
|
||
|
||
EVA_EXAC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1694662811">ss1694662811</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>27</td>
|
||
<td>
|
||
|
||
WEILL_CORNELL_DGM
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1939852051">ss1939852051</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>28</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1945981458">ss1945981458</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>29</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1958229242">ss1958229242</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>30</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1958229243">ss1958229243</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>31</td>
|
||
<td>
|
||
|
||
HUMAN_LONGEVITY
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2321325427">ss2321325427</a>
|
||
|
||
</td>
|
||
<td>Dec 20, 2016
|
||
(150)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>32</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2634991674">ss2634991674</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>33</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2711191349">ss2711191349</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>34</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2745625036">ss2745625036</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>35</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2746166238">ss2746166238</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>36</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2984756196">ss2984756196</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>37</td>
|
||
<td>
|
||
|
||
AFFY
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2985493628">ss2985493628</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>38</td>
|
||
<td>
|
||
|
||
AFFY
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2986139339">ss2986139339</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>39</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3023047875">ss3023047875</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>40</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3626004428">ss3626004428</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>41</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3630501801">ss3630501801</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>42</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3645020372">ss3645020372</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>43</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3653606143">ss3653606143</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>44</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3654261379">ss3654261379</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>45</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3726710870">ss3726710870</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>46</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3744335273">ss3744335273</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>47</td>
|
||
<td>
|
||
|
||
KHV_HUMAN_GENOMES
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3823525347">ss3823525347</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>48</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3825516080">ss3825516080</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>49</td>
|
||
<td>
|
||
|
||
SGDP_PRJ
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3892536823">ss3892536823</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>50</td>
|
||
<td>
|
||
|
||
FSA-LAB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3984446471">ss3984446471</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>51</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3985974748">ss3985974748</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>52</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3986888537">ss3986888537</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>53</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss6403997829">ss6403997829</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>54</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss6473686955">ss6473686955</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>55</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss6473686956">ss6473686956</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>56</td>
|
||
<td>
|
||
|
||
TOPMED
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8141613329">ss8141613329</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>57</td>
|
||
<td>
|
||
|
||
TOPMED
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8141613330">ss8141613330</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>58</td>
|
||
<td>
|
||
|
||
1000G_HIGH_COVERAGE
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8314364529">ss8314364529</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>59</td>
|
||
<td>
|
||
|
||
HUGCELL_USP
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8505716667">ss8505716667</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>60</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8512474065">ss8512474065</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>61</td>
|
||
<td>
|
||
|
||
1000G_HIGH_COVERAGE
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8623703419">ss8623703419</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>62</td>
|
||
<td>
|
||
|
||
SANFORD_IMAGENETICS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8624741787">ss8624741787</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>63</td>
|
||
<td>
|
||
|
||
SANFORD_IMAGENETICS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8666098068">ss8666098068</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>64</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8848241670">ss8848241670</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>65</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8848748608">ss8848748608</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>66</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8979247997">ss8979247997</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>67</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss10110230576">ss10110230576</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>68</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss10110230577">ss10110230577</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>69</td>
|
||
<td>
|
||
|
||
1000Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153763492
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>70</td>
|
||
<td>
|
||
|
||
1000Genomes_30X
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154535277
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>71</td>
|
||
<td>
|
||
|
||
The Avon Longitudinal Study of Parents and Children
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153763492
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>72</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_72"
|
||
data-ga-label="submission_tt_72" class="disabled">
|
||
ExAC
|
||
</a>
|
||
<p id="submission_tt_72" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 10174658 (NC_000023.10:153763491:T:T 85203/87430, NC_000023.10:153763491:T:C 2227/87430)<br>Row 10174659 (NC_000023.10:153763491:T:T 87422/87430, NC_000023.10:153763491:T:A 8/87430)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>73</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_73"
|
||
data-ga-label="submission_tt_73" class="disabled">
|
||
ExAC
|
||
</a>
|
||
<p id="submission_tt_73" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 10174658 (NC_000023.10:153763491:T:T 85203/87430, NC_000023.10:153763491:T:C 2227/87430)<br>Row 10174659 (NC_000023.10:153763491:T:T 87422/87430, NC_000023.10:153763491:T:A 8/87430)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>74</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_74"
|
||
data-ga-label="submission_tt_74" class="disabled">
|
||
gnomAD v4 - Exomes
|
||
</a>
|
||
<p id="submission_tt_74" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 69040493 (NC_000023.11:154535276:T:A 33/1052049)<br>Row 69040494 (NC_000023.11:154535276:T:C 9581/1052049)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>75</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_75"
|
||
data-ga-label="submission_tt_75" class="disabled">
|
||
gnomAD v4 - Exomes
|
||
</a>
|
||
<p id="submission_tt_75" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 69040493 (NC_000023.11:154535276:T:A 33/1052049)<br>Row 69040494 (NC_000023.11:154535276:T:C 9581/1052049)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>76</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_76"
|
||
data-ga-label="submission_tt_76" class="disabled">
|
||
gnomAD v4 - Genomes
|
||
</a>
|
||
<p id="submission_tt_76" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 638031102 (NC_000023.11:154535276:T:A 2/109695)<br>Row 638031103 (NC_000023.11:154535276:T:C 10052/109717)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>77</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_77"
|
||
data-ga-label="submission_tt_77" class="disabled">
|
||
gnomAD v4 - Genomes
|
||
</a>
|
||
<p id="submission_tt_77" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 638031102 (NC_000023.11:154535276:T:A 2/109695)<br>Row 638031103 (NC_000023.11:154535276:T:C 10052/109717)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>78</td>
|
||
<td>
|
||
|
||
Ancient Sardinia genome-wide 1240k capture data generation and analysis
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153763492
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>79</td>
|
||
<td>
|
||
|
||
Qatari
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153763492
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>80</td>
|
||
<td>
|
||
|
||
SGDP_PRJ
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153763492
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>81</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_81"
|
||
data-ga-label="submission_tt_81" class="disabled">
|
||
TopMed
|
||
</a>
|
||
<p id="submission_tt_81" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 705219686 (NC_000023.11:154535276:T:A 24/264690)<br>Row 705219687 (NC_000023.11:154535276:T:C 27207/264690)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="disabled" >
|
||
<td>82</td>
|
||
<td>
|
||
|
||
<a href="#submission_tt_82"
|
||
data-ga-label="submission_tt_82" class="disabled">
|
||
TopMed
|
||
</a>
|
||
<p id="submission_tt_82" class="break_values">
|
||
Submission ignored due to conflicting rows:<br>Row 705219686 (NC_000023.11:154535276:T:A 24/264690)<br>Row 705219687 (NC_000023.11:154535276:T:C 27207/264690)
|
||
</p>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
-
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>83</td>
|
||
<td>
|
||
|
||
UK 10K study - Twins
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153763492
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>84</td>
|
||
<td>
|
||
|
||
ALFA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154535277
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>85</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000011073.15/">RCV000011073.15</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>86</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000011075.24/">RCV000011075.24</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>87</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000011109.13/">RCV000011109.13</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>88</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000079405.47/">RCV000079405.47</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>89</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000178823.32/">RCV000178823.32</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>90</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000307631.13/">RCV000307631.13</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>91</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000477820.9/">RCV000477820.9</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>92</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000999876.11/">RCV000999876.11</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>93</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001095678.10/">RCV001095678.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>94</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001267359.12/">RCV001267359.12</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>95</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001375611.12/">RCV001375611.12</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>96</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002170707.10/">RCV002170707.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>97</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305425.11/">RCV002305425.11</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>98</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305432.10/">RCV002305432.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>99</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305707.10/">RCV002305707.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>100</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305727.10/">RCV002305727.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>101</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305732.10/">RCV002305732.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>102</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305803.10/">RCV002305803.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>103</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305807.10/">RCV002305807.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>104</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305808.10/">RCV002305808.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>105</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305836.10/">RCV002305836.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>106</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002305857.10/">RCV002305857.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
<div id="history" class="js-tabcontent">
|
||
<a data-width="640px" href="#history_tp"
|
||
ref="section=History&action=Click-on-Tooltip&label=history_tp"
|
||
data-section="History" data-ga-action="Click-on-Tooltip" data-ga-label="history_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="history_tp">
|
||
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).</p>
|
||
|
||
|
||
<div id="updt_hist">
|
||
|
||
|
||
<table id="up_hist_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Associated ID</th>
|
||
<th>History Updated (Build)</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="History" data-ga-action="Click-on"
|
||
data-ga-label="Associated_ID_link"
|
||
ref="section=History&action=Click-on&label=Associated_ID_link"
|
||
href="rs2230035">rs2230035</a>
|
||
</td>
|
||
<td>Jan 04, 2002
|
||
(102)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="History" data-ga-action="Click-on"
|
||
data-ga-label="Associated_ID_link"
|
||
ref="section=History&action=Click-on&label=Associated_ID_link"
|
||
href="rs3191189">rs3191189</a>
|
||
</td>
|
||
<td>Jul 03, 2002
|
||
(106)
|
||
</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
|
||
|
||
<div id="obs_present">
|
||
<span>Added to this RefSNP Cluster:</span>
|
||
|
||
|
||
<table id="obs_present_table" class="observation_table stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Submission IDs</th>
|
||
<th>Observation <a href="/variation/notation/">SPDI</a></th>
|
||
<th>Canonical <a href="/variation/notation/">SPDI</a></th>
|
||
<th>Source RSIDs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss1694662811,
|
||
|
||
ss2745625036,
|
||
|
||
ss8512474065
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.10:153763491:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV002170707.10,
|
||
|
||
7031716801,
|
||
|
||
ss6473686955,
|
||
|
||
ss8141613329,
|
||
|
||
ss10110230576
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss115337861,
|
||
|
||
ss165817158
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.9:153416685:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
84651633,
|
||
|
||
46612239,
|
||
|
||
1200675,
|
||
|
||
21893973,
|
||
|
||
44553803,
|
||
|
||
46612239,
|
||
|
||
ss341909269,
|
||
|
||
ss342562465,
|
||
|
||
ss491206105,
|
||
|
||
ss491580926,
|
||
|
||
ss535323435,
|
||
|
||
ss567108039,
|
||
|
||
ss1067612240,
|
||
|
||
ss1556698416,
|
||
|
||
ss1641785229,
|
||
|
||
ss1684779262,
|
||
|
||
ss1694662810,
|
||
|
||
ss1939852051,
|
||
|
||
ss1945981458,
|
||
|
||
ss1958229242,
|
||
|
||
ss1958229243,
|
||
|
||
ss2634991674,
|
||
|
||
ss2711191349,
|
||
|
||
ss2745625036,
|
||
|
||
ss2746166238,
|
||
|
||
ss2984756196,
|
||
|
||
ss2985493628,
|
||
|
||
ss2986139339,
|
||
|
||
ss3023047875,
|
||
|
||
ss3626004428,
|
||
|
||
ss3630501801,
|
||
|
||
ss3645020372,
|
||
|
||
ss3653606143,
|
||
|
||
ss3654261379,
|
||
|
||
ss3744335273,
|
||
|
||
ss3825516080,
|
||
|
||
ss3892536823,
|
||
|
||
ss3984446471,
|
||
|
||
ss3985974748,
|
||
|
||
ss3986888537,
|
||
|
||
ss6403997829,
|
||
|
||
ss8512474065,
|
||
|
||
ss8624741787,
|
||
|
||
ss8666098068,
|
||
|
||
ss8848241670,
|
||
|
||
ss8848748608,
|
||
|
||
ss8979247997
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.10:153763491:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000011073.15,
|
||
|
||
RCV000011075.24,
|
||
|
||
RCV000011109.13,
|
||
|
||
RCV000079405.47,
|
||
|
||
RCV000178823.32,
|
||
|
||
RCV000307631.13,
|
||
|
||
RCV000477820.9,
|
||
|
||
RCV000999876.11,
|
||
|
||
RCV001095678.10,
|
||
|
||
RCV001267359.12,
|
||
|
||
RCV001375611.12,
|
||
|
||
RCV002305425.11,
|
||
|
||
RCV002305432.10,
|
||
|
||
RCV002305707.10,
|
||
|
||
RCV002305727.10,
|
||
|
||
RCV002305732.10,
|
||
|
||
RCV002305803.10,
|
||
|
||
RCV002305807.10,
|
||
|
||
RCV002305808.10,
|
||
|
||
RCV002305836.10,
|
||
|
||
RCV002305857.10,
|
||
|
||
111229354,
|
||
|
||
7031716801,
|
||
|
||
ss244239872,
|
||
|
||
ss289479822,
|
||
|
||
ss2321325427,
|
||
|
||
ss3726710870,
|
||
|
||
ss3823525347,
|
||
|
||
ss6473686956,
|
||
|
||
ss8141613330,
|
||
|
||
ss8314364529,
|
||
|
||
ss8505716667,
|
||
|
||
ss8623703419,
|
||
|
||
ss10110230577
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss18052006
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NT_025965.12:1115113:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss1525831,
|
||
|
||
ss3177126,
|
||
|
||
ss3526371,
|
||
|
||
ss4416360,
|
||
|
||
ss24796045,
|
||
|
||
ss43577126,
|
||
|
||
ss86241800,
|
||
|
||
ss105436778,
|
||
|
||
ss159746045
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NT_167198.1:4681429:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154535276:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="publications" class="js-tabcontent">
|
||
<a data-width="640px" href="#publications_tp"
|
||
ref="section=Publications&action=Click-on-Tooltip&label=publications_tp"
|
||
data-section="Publications" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="publications_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="publications_tp">
|
||
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.</p>
|
||
|
||
|
||
<div class="sect_heading">
|
||
47
|
||
citations for rs1050829
|
||
</div>
|
||
<div id="publication">
|
||
<table id="publication_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>PMID</th>
|
||
<th class="fir_col">Title</th>
|
||
<th>Author</th>
|
||
<th>Year</th>
|
||
<th>Journal</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/5448"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">5448</a>
|
||
</td>
|
||
<td class="fir_col">Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure.</td>
|
||
<td>Babalola AO et al.</td>
|
||
<td>1976</td>
|
||
<td>The Journal of biological chemistry</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/669721"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">669721</a>
|
||
</td>
|
||
<td class="fir_col">A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia.</td>
|
||
<td>Lisker R et al.</td>
|
||
<td>1978</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/903703"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">903703</a>
|
||
</td>
|
||
<td class="fir_col">A glucose 6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia.</td>
|
||
<td>Lisker R et al.</td>
|
||
<td>1977</td>
|
||
<td>The Journal of laboratory and clinical medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1303173"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1303173</a>
|
||
</td>
|
||
<td class="fir_col">Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.</td>
|
||
<td>Town M et al.</td>
|
||
<td>1992</td>
|
||
<td>Human molecular genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1631957"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1631957</a>
|
||
</td>
|
||
<td class="fir_col">The molecular basis of glucose-6-phosphate dehydrogenase deficiency.</td>
|
||
<td>Vulliamy T et al.</td>
|
||
<td>1992</td>
|
||
<td>Trends in genetics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1978554"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1978554</a>
|
||
</td>
|
||
<td class="fir_col">The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.</td>
|
||
<td>Beutler E et al.</td>
|
||
<td>1990</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2253938"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2253938</a>
|
||
</td>
|
||
<td class="fir_col">Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district.</td>
|
||
<td>Calabrò V et al.</td>
|
||
<td>1990</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2503817"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2503817</a>
|
||
</td>
|
||
<td class="fir_col">G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.</td>
|
||
<td>Vulliamy TJ et al.</td>
|
||
<td>1989</td>
|
||
<td>Nucleic acids research</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2572288"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2572288</a>
|
||
</td>
|
||
<td class="fir_col">Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-.</td>
|
||
<td>Beutler E et al.</td>
|
||
<td>1989</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2836867"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2836867</a>
|
||
</td>
|
||
<td class="fir_col">Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).</td>
|
||
<td>Hirono A et al.</td>
|
||
<td>1988</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2912886"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2912886</a>
|
||
</td>
|
||
<td class="fir_col">Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum.</td>
|
||
<td>Vives-Corrons JL et al.</td>
|
||
<td>1989</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3393536"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3393536</a>
|
||
</td>
|
||
<td class="fir_col">Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.</td>
|
||
<td>Vulliamy TJ et al.</td>
|
||
<td>1988</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3446582"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3446582</a>
|
||
</td>
|
||
<td class="fir_col">A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+).</td>
|
||
<td>Takizawa T et al.</td>
|
||
<td>1987</td>
|
||
<td>Genomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/4388132"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">4388132</a>
|
||
</td>
|
||
<td class="fir_col">Human glucose 6-phosphate dehydrogenase: purification and characterization of Negro type variant (A+) and comparison with normal enzyme (B+).</td>
|
||
<td>Yoshida A et al.</td>
|
||
<td>1967</td>
|
||
<td>Biochemical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/5492291"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">5492291</a>
|
||
</td>
|
||
<td class="fir_col">Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production.</td>
|
||
<td>Yoshida A et al.</td>
|
||
<td>1970</td>
|
||
<td>Journal of molecular biology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6433630"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6433630</a>
|
||
</td>
|
||
<td class="fir_col">A glucose-6-phosphate dehydrogenase variant, Gd(-) Santamaria found in Costa Rica.</td>
|
||
<td>Sáenz GF et al.</td>
|
||
<td>1984</td>
|
||
<td>Acta haematologica</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/7106752"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">7106752</a>
|
||
</td>
|
||
<td class="fir_col">Heterogeneity of "Mediterranean type" glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism.</td>
|
||
<td>Vives Corrons JL et al.</td>
|
||
<td>1982</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/7291768"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">7291768</a>
|
||
</td>
|
||
<td class="fir_col">[Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia].</td>
|
||
<td>Lisker R et al.</td>
|
||
<td>1981</td>
|
||
<td>Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/7949118"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">7949118</a>
|
||
</td>
|
||
<td class="fir_col">G6PD deficiency.</td>
|
||
<td>Beutler E et al.</td>
|
||
<td>1994</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/10734064"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">10734064</a>
|
||
</td>
|
||
<td class="fir_col">Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency.</td>
|
||
<td>Gómez-Gallego F et al.</td>
|
||
<td>2000</td>
|
||
<td>The Journal of biological chemistry</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12367584"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12367584</a>
|
||
</td>
|
||
<td class="fir_col">Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.</td>
|
||
<td>Hamel AR et al.</td>
|
||
<td>2002</td>
|
||
<td>Blood cells, molecules & diseases</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/14278484"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">14278484</a>
|
||
</td>
|
||
<td class="fir_col">FUNCTIONALLY ABNORMAL GLUCOSE-6-PHOSPHATE DEHYDROGENASES.</td>
|
||
<td>KIRKMAN HN et al.</td>
|
||
<td>1964</td>
|
||
<td>Cold Spring Harbor symposia on quantitative biology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19223928"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19223928</a>
|
||
</td>
|
||
<td class="fir_col">Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility.</td>
|
||
<td>Clark TG et al.</td>
|
||
<td>2009</td>
|
||
<td>European journal of human genetics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20459687"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20459687</a>
|
||
</td>
|
||
<td class="fir_col">Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.</td>
|
||
<td>Eid NA et al.</td>
|
||
<td>2010</td>
|
||
<td>Malaria journal</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21515823"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21515823</a>
|
||
</td>
|
||
<td class="fir_col">Genetic predictors for stroke in children with sickle cell anemia.</td>
|
||
<td>Flanagan JM et al.</td>
|
||
<td>2011</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21867552"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21867552</a>
|
||
</td>
|
||
<td class="fir_col">Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites.</td>
|
||
<td>Diakite M et al.</td>
|
||
<td>2011</td>
|
||
<td>Malaria journal</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21931645"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21931645</a>
|
||
</td>
|
||
<td class="fir_col">An exhaustive, non-euclidean, non-parametric data mining tool for unraveling the complexity of biological systems--novel insights into malaria.</td>
|
||
<td>Loucoubar C et al.</td>
|
||
<td>2011</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21931771"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21931771</a>
|
||
</td>
|
||
<td class="fir_col">Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.</td>
|
||
<td>B R et al.</td>
|
||
<td>2011</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22438807"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22438807</a>
|
||
</td>
|
||
<td class="fir_col">HMOX1 gene promoter alleles and high HO-1 levels are associated with severe malaria in Gambian children.</td>
|
||
<td>Walther M et al.</td>
|
||
<td>2012</td>
|
||
<td>PLoS pathogens</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22957039"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22957039</a>
|
||
</td>
|
||
<td class="fir_col">Candidate polymorphisms and severe malaria in a Malian population.</td>
|
||
<td>Toure O et al.</td>
|
||
<td>2012</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23144702"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23144702</a>
|
||
</td>
|
||
<td class="fir_col">Candidate human genetic polymorphisms and severe malaria in a Tanzanian population.</td>
|
||
<td>Manjurano A et al.</td>
|
||
<td>2012</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23757202"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23757202</a>
|
||
</td>
|
||
<td class="fir_col">Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.</td>
|
||
<td>Bean LJ et al.</td>
|
||
<td>2013</td>
|
||
<td>Human mutation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24934404"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24934404</a>
|
||
</td>
|
||
<td class="fir_col">Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.</td>
|
||
<td>Apinjoh TO et al.</td>
|
||
<td>2014</td>
|
||
<td>Malaria journal</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24944790"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24944790</a>
|
||
</td>
|
||
<td class="fir_col">Screening for 392 polymorphisms in 141 pharmacogenes.</td>
|
||
<td>Kim JY et al.</td>
|
||
<td>2014</td>
|
||
<td>Biomedical reports</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25741868"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25741868</a>
|
||
</td>
|
||
<td class="fir_col">Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.</td>
|
||
<td>Richards S et al.</td>
|
||
<td>2015</td>
|
||
<td>Genetics in medicine </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/27413522"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">27413522</a>
|
||
</td>
|
||
<td class="fir_col">Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Burkina Faso: G-6-PD Betica Selma and Santamaria in People with Symptomatic Malaria in Ouagadougou.</td>
|
||
<td>Ouattara AK et al.</td>
|
||
<td>2016</td>
|
||
<td>Mediterranean journal of hematology and infectious diseases</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/27767381"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">27767381</a>
|
||
</td>
|
||
<td class="fir_col">The effect of SNPs in CYP450 in chloroquine/primaquine Plasmodium vivax malaria treatment.</td>
|
||
<td>Sortica VA et al.</td>
|
||
<td>2016</td>
|
||
<td>Pharmacogenomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/28067620"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">28067620</a>
|
||
</td>
|
||
<td class="fir_col">Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia.</td>
|
||
<td>Clarke GM et al.</td>
|
||
<td>2017</td>
|
||
<td>eLife</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/28541483"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">28541483</a>
|
||
</td>
|
||
<td class="fir_col">Malaria Host Candidate Genes Validated by Association With Current, Recent, and Historical Measures of Transmission Intensity.</td>
|
||
<td>Sepúlveda N et al.</td>
|
||
<td>2017</td>
|
||
<td>The Journal of infectious diseases</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/30819192"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">30819192</a>
|
||
</td>
|
||
<td class="fir_col">An update on glucose-6-phosphate dehydrogenase deficiency in children from Brazzaville, Republic of Congo.</td>
|
||
<td>Gampio Gueye NS et al.</td>
|
||
<td>2019</td>
|
||
<td>Malaria journal</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/32936528"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">32936528</a>
|
||
</td>
|
||
<td class="fir_col">Important Pharmacogenetic Information for Drugs Prescribed During the SARS-CoV-2 Infection (COVID-19).</td>
|
||
<td>Zubiaur P et al.</td>
|
||
<td>2020</td>
|
||
<td>Clinical and translational science</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/33170161"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">33170161</a>
|
||
</td>
|
||
<td class="fir_col">Genetic test for the prescription of diets in support of physical activity.</td>
|
||
<td>Naureen Z et al.</td>
|
||
<td>2020</td>
|
||
<td>Acta bio-medica </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/33875422"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">33875422</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.</td>
|
||
<td>Pernaute-Lau L et al.</td>
|
||
<td>2021</td>
|
||
<td>Antimicrobial agents and chemotherapy</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/33897764"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">33897764</a>
|
||
</td>
|
||
<td class="fir_col">G6PD Polymorphisms and Hemolysis After Antimalarial Treatment With Low Single-Dose Primaquine: A Pooled Analysis of Six African Clinical Trials.</td>
|
||
<td>Sepúlveda N et al.</td>
|
||
<td>2021</td>
|
||
<td>Frontiers in genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/34577605"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">34577605</a>
|
||
</td>
|
||
<td class="fir_col">Clinical Application of Pharmacogenetic Markers in the Treatment of Dermatologic Pathologies.</td>
|
||
<td>Membrive Jiménez C et al.</td>
|
||
<td>2021</td>
|
||
<td>Pharmaceuticals (Basel, Switzerland)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/35283964"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">35283964</a>
|
||
</td>
|
||
<td class="fir_col">Differences in the genotype frequencies of genes related to blood pressure regulation - a comparative study between South-West Europe and Peri-equatorial Africa.</td>
|
||
<td>Aguiar L et al.</td>
|
||
<td>2021</td>
|
||
<td>African health sciences</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/36479490"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">36479490</a>
|
||
</td>
|
||
<td class="fir_col">Clinical assessment for diet prescription.</td>
|
||
<td>Kiani AK et al.</td>
|
||
<td>2022</td>
|
||
<td>Journal of preventive medicine and hygiene</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
||
<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
|
||
href="/pubmed?term=5448,669721,903703,1303173,1631957,1978554,2253938,2503817,2572288,2836867,2912886,3393536,3446582,4388132,5492291,6433630,7106752,7291768,7949118,10734064,12367584,14278484,19223928,20459687,21515823,21867552,21931645,21931771,22438807,22957039,23144702,23757202,24934404,24944790,25741868,27413522,27767381,28067620,28541483,30819192,32936528,33170161,33875422,33897764,34577605,35283964,36479490"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="View_All_link">
|
||
<button class="usa-button-outline" type="button">View All in PubMed</button>
|
||
</a>
|
||
|
||
</div>
|
||
|
||
<div id="flanks" class="js-tabcontent">
|
||
<a data-width="640px" href="#flanks_tp"
|
||
ref="section=Flanks&action=Click-on-Tooltip&label=flanks_tp"
|
||
data-section="Flanks" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="flanks_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="flanks_tp">The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.</p>
|
||
|
||
<div id="flanks_container">
|
||
<div id="context_container">
|
||
<span class="sect_heading">
|
||
Genome context:
|
||
</span>
|
||
|
||
<select id="flank_context">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
seq_acc_ver="NC_000023.11" position="154535277"
|
||
assmacc="GCF_000001405.40" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
GRCh38.p14 ( NC_000023.11 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
seq_acc_ver="NW_003871103.3" position="1969256"
|
||
assmacc="GCF_000001405.25" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
GRCh37.p13 ( NW_003871103.3 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
seq_acc_ver="NG_009015.2" position="17296"
|
||
assmacc="" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
NG_009015.2
|
||
|
||
</option>
|
||
|
||
<option value="option4"
|
||
|
||
seq_acc_ver="NC_000023.10" position="153763492"
|
||
assmacc="GCF_000001405.25" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
GRCh37.p13 ( NC_000023.10 )
|
||
|
||
</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
|
||
<span class="sect_heading">
|
||
Select flank length:
|
||
</span>
|
||
<select id="flank_length">
|
||
|
||
|
||
<option value="25"
|
||
selected="selected">
|
||
25 nt</option>
|
||
|
||
<option value="50"
|
||
>
|
||
50 nt</option>
|
||
|
||
<option value="100"
|
||
>
|
||
100 nt</option>
|
||
|
||
<option value="200"
|
||
>
|
||
200 nt</option>
|
||
|
||
|
||
</select>
|
||
<button id="retrieve_flank" class="usa-button-outline" type="button">Retrieve</button>
|
||
<div id="flanking_sequence">
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
<div class="usa-row">
|
||
<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
|
||
<div>
|
||
<span><a href="#top" ref="section=Sequence Viewer&action=Click-on&label=Top_link"
|
||
data-section="Sequence Viewer" data-ga-action="Click-on"
|
||
data-ga-label="Top_link">Top</a></span><span>▲</span>
|
||
<a data-width="640px" href="#sequence_viewer_tp"
|
||
ref="section=Sequence Viewer&action=Click-on-Tooltip&label=sequence_viewer_tp"
|
||
data-section="Sequence Viewer" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="sequence_viewer_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="sequence_viewer_tp">
|
||
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).<br/>
|
||
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.<br/>
|
||
Visit <a class="external-link" href="/tools/sviewer/" target="_blank">Sequence Viewer</a> for help with navigating inside the display and modifying the selection of displayed data tracks.</p>
|
||
|
||
</div>
|
||
</h3>
|
||
<div id="sequence">
|
||
|
||
<div id="seq_div" class="usa-width-one-whole">
|
||
<label for="seq_sel">Choose placement</label>
|
||
<select id="seq_sel">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
data-svparams="id=NC_000023.11&assm_context=GCF_000001405.40&v=154535227.0:154535327.0&mk=154535277|rs1050829!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="1050829">
|
||
|
||
GRCh38.p14 ( NC_000023.11 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
data-svparams="id=NW_003871103.3&assm_context=GCF_000001405.25&v=1969206.0:1969306.0&mk=1969256|rs1050829!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="1050829">
|
||
|
||
GRCh37.p13 ( NW_003871103.3 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
data-svparams="id=NG_009015.2&assm_context=&v=17246.0:17346.0&mk=17296|rs1050829!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="1050829">
|
||
|
||
NG_009015.2
|
||
|
||
</option>
|
||
|
||
<option value="option4"
|
||
|
||
data-svparams="id=NC_000023.10&assm_context=GCF_000001405.25&v=153763442.0:153763542.0&mk=153763492|rs1050829!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="1050829">
|
||
|
||
GRCh37.p13 ( NC_000023.10 )
|
||
|
||
</option>
|
||
|
||
</select>
|
||
<div class="align-right">
|
||
<a href="#"
|
||
ref="section=Sequence Viewer&action=Click-on&label=See_rs_in_Variation_Viewer_link"
|
||
data-section="Sequence Viewer" data-ga-action="Click-on"
|
||
data-ga-label="See_rs_in_Variation_Viewer_link">
|
||
<button title="see rs1050829 and neighboring variants in Variation Viewer"
|
||
class="usa-button-outline" id="variation_viewer_btn" type="button">See rs1050829
|
||
in Variation Viewer
|
||
</button>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
<div class="usa-width-one-whole">
|
||
<div id="sv1" class="SeqViewerApp align-right">
|
||
|
||
<a href="?embedded=true&app_context=Variation_Viewer_2-1&id=NC_000023.11"
|
||
aria-hidden="true"></a>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
</main>
|
||
</div>
|
||
|
||
<script type="text/javascript" src="https://www.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
|
||
|
||
|
||
|
||
|
||
<!-- ========== 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>
|
||
<a class="footer-icon" id="footer_linkedin"
|
||
href="https://www.linkedin.com/company/ncbinlm"
|
||
aria-label="LinkedIn"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<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">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<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">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12"
|
||
d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"/></svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter"
|
||
target="_blank" rel="noopener noreferrer">
|
||
<svg width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.2" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="38" height="38" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg></a>
|
||
</li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine"
|
||
aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px"
|
||
y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<style type="text/css">
|
||
.st10 {
|
||
fill: #FFFFFF;
|
||
}
|
||
|
||
.st110 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
</style>
|
||
<title>SM-Facebook</title>
|
||
<g>
|
||
<g>
|
||
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9
|
||
v67.5H135v-67.5h21.7L159,99.1z"></path>
|
||
</g>
|
||
</g>
|
||
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube"
|
||
target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg"
|
||
xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
|
||
style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<title>SM-Youtube</title>
|
||
<style type="text/css">
|
||
.st4 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
|
||
.st5 {
|
||
fill: #FFFFFF;
|
||
}
|
||
</style>
|
||
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
|
||
<g transform="translate(0,-952.36218)">
|
||
<path class="st5"
|
||
d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
|
||
v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
|
||
</g>
|
||
</svg></a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br>
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323"
|
||
class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br>
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br>
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office"
|
||
class="text-white">FOIA</a><br>
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br>
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br>
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white"
|
||
href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a
|
||
class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
</footer>
|
||
<!-- ========== END FOOTER ========== -->
|
||
<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
|
||
|
||
<script type="text/javascript">
|
||
var nwds_version = "1.2.3";
|
||
|
||
var meta_nwds_ver = document.createElement('meta');
|
||
meta_nwds_ver.name = 'ncbi_nwds_ver';
|
||
meta_nwds_ver.content = nwds_version;
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
|
||
|
||
var meta_nwds = document.createElement('meta');
|
||
meta_nwds.name = 'ncbi_nwds';
|
||
meta_nwds.content = 'yes';
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds);
|
||
|
||
var alertsUrl = "/core/alerts/alerts.js";
|
||
if (typeof ncbiBaseUrl !== 'undefined') {
|
||
alertsUrl = ncbiBaseUrl + alertsUrl;
|
||
}
|
||
</script>
|
||
|
||
|
||
|
||
|
||
<!--<script type="text/javascript" src="/snp/static/snp2redesign/js/lib/jquery/jquery.min.js"></script>-->
|
||
<!--<script src="node_modules/jquery/dist/jquery.js"></script>-->
|
||
<script type="text/javascript" src="/snp/static/snp2redesign/js/seq_viewer.js"></script>
|
||
|
||
|
||
<script type="application/javascript">
|
||
|
||
(function ($) {
|
||
$(document).ready(function () {
|
||
var tabLItemsArrowSpans = $('li.js-tablist__item > a > span');
|
||
$('li.js-tablist__item').click(function () {
|
||
tabLItemsArrowSpans.removeClass('js-tablist__item-has-focus');
|
||
$(this).children().children().addClass('js-tablist__item-has-focus');
|
||
});
|
||
});
|
||
})(jQuery);
|
||
</script>
|
||
|
||
<script type="application/javascript" src="/snp/static/snp2redesign/js/lib/jquery-accessible-tabs.js"></script>
|
||
<!--<script type="text/javascript" src="/snp/static/snp2redesign/js/lib/ncbi-datatable/ncbi-datatable.js"></script>-->
|
||
|
||
<!--<script type="text/javascript" src="/snp/static/snp2redesign/js/custom_functions.js"></script>-->
|
||
<script src="/snp/static/django_uswds/uswds/js/uswds.js"></script>
|
||
<script src="/snp/static/snp2redesign/dist/app.bundle.js" type="text/javascript"> </script>
|
||
|
||
|
||
<script src="/snp/static/nwds/js/nwds.js" type="text/javascript"> </script>
|
||
<script src="/snp/static/nwds/js/ncbipopup.js" type="text/javascript"> </script>
|
||
<script src="/snp/static/nwds/js/header.js" type="text/javascript"> </script>
|
||
<script src="/snp/static/nwds/js/ncbiclearbutton.js" type="text/javascript"> </script>
|
||
<script src="/snp/static/nwds/js/override-uswds.js" type="text/javascript"> </script>
|
||
|
||
|
||
|
||
|
||
|
||
<div>Software version is: 2.0.1.post825+45319f0</div>
|
||
|
||
</body>
|
||
</html> |