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<h1><a data-section="Header" data-ga-action="Click-on"
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data-ga-label="dbSNP Short Genetic Variations"
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ref="section=Header&action=Click-on&label=dbSNP Short Genetic Variations"
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href="/snp/">dbSNP</a>
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<span class="uswds-gray tagline">Short Genetic Variations</span>
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</h1>
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<h3 class="usa-alert-heading">Welcome to the Reference SNP (rs) Report</h3>
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<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"
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data-ga-label="Forward orientation">Variant Details tab</a> for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the
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<h3>Reference SNP (rs) Report</h3>
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<div class="usa-width-one-half">
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<ul class="utilities usa-unstyled-list align-right">
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<li title="Download in API JSON format"><a href="https://api.ncbi.nlm.nih.gov/variation/v0/refsnp/1050828"
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class="fa fa-question-circle ncbiPopper" id="mainhelp_tooltip"
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ref="section=Main&action=Click-on-Tooltip&label=main_tp"><span class="usa-sr-only">Help</span></a>
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<p id="main_tp">
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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>
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<div class="usa-grid-full clearfix">
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<div class="usa-width-two-thirds">
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<div class="blue-box">
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<h2 id="refsnp_id">rs1050828</h2>
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</div>
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</div>
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<div class="accession usa-width-one-third">
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<p>Current Build <span>157</span></p>
|
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<p>Released <span>
|
||
|
||
September 3, 2024
|
||
|
||
</span></p>
|
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</div>
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</div>
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|
||
|
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<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:154536002 </span><span>(GRCh38.p14) </span><a data-width="640px" href="#pos_tp"
|
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ref="section=Summary&action=Click-on-Tooltip&label=pos_tp"
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data-section="Summary" data-ga-action="Click-on-Tooltip"
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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>
|
||
|
||
|
||
C>T
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
SNV
|
||
|
||
|
||
|
||
<span class="small-font gray">Single Nucleotide Variation</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div>
|
||
T=0.0035353
|
||
(3719/1051957, GnomAD_exomes)
|
||
</div><div>
|
||
T=0.038373
|
||
(10157/264690, TOPMED)
|
||
</div><span>
|
||
T=0.006029 (1161/192568, ALFA)
|
||
</span><span>(<a id="expandfrequency" data-freq-remn="12"
|
||
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">+ 12 more</a>)</span><div class="ui-widget hide_elm" id="remn_summ_freq"><div>
|
||
T=0.033743
|
||
(3708/109889, GnomAD_genomes)
|
||
</div><div>
|
||
T=0.01151
|
||
(997/86653, ExAC)
|
||
</div><div>
|
||
T=0.00002
|
||
(1/66162, 38KJPN)
|
||
</div><div>
|
||
T=0.0389
|
||
(187/4805, 1000G_30X)
|
||
</div><div>
|
||
T=0.0376
|
||
(142/3775, 1000G)
|
||
</div><div>
|
||
T=0.0003
|
||
(1/3708, TWINSUK)
|
||
</div><div>
|
||
T=0.0000
|
||
(0/2889, ALSPAC)
|
||
</div><div>
|
||
T=0.0018
|
||
(2/1132, Daghestan)
|
||
</div><div>
|
||
T=0.0905
|
||
(99/1094, HapMap)
|
||
</div><div>
|
||
T=0.019
|
||
(2/108, Qatari)
|
||
</div><div>
|
||
T=0.00
|
||
(0/70, Ancient Sardinia)
|
||
</div><div>
|
||
C=0.2
|
||
(1/4, 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=((25400[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">74
|
||
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">192568</td>
|
||
<td class="popfreq_ref_allele">C=0.993971</td>
|
||
<td class="popfreq_alt_allele">T=0.006029</td>
|
||
<td class="popfreq_alt_allele">0.989926</td>
|
||
<td class="popfreq_alt_allele">0.001984</td>
|
||
<td class="popfreq_alt_allele">0.008091</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">164198</td>
|
||
<td class="popfreq_ref_allele">C=0.999842</td>
|
||
<td class="popfreq_alt_allele">T=0.000158</td>
|
||
<td class="popfreq_alt_allele">0.999744</td>
|
||
<td class="popfreq_alt_allele">0.000061</td>
|
||
<td class="popfreq_alt_allele">0.000195</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">9228</td>
|
||
<td class="popfreq_ref_allele">C=0.8838</td>
|
||
<td class="popfreq_alt_allele">T=0.1162</td>
|
||
<td class="popfreq_alt_allele">0.805592</td>
|
||
<td class="popfreq_alt_allele">0.037928</td>
|
||
<td class="popfreq_alt_allele">0.15648</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">302</td>
|
||
<td class="popfreq_ref_allele">C=0.864</td>
|
||
<td class="popfreq_alt_allele">T=0.136</td>
|
||
<td class="popfreq_alt_allele">0.761589</td>
|
||
<td class="popfreq_alt_allele">0.033113</td>
|
||
<td class="popfreq_alt_allele">0.205298</td>
|
||
<td class="popfreq_alt_allele">2</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492698">African American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">8926</td>
|
||
<td class="popfreq_ref_allele">C=0.8845</td>
|
||
<td class="popfreq_alt_allele">T=0.1155</td>
|
||
<td class="popfreq_alt_allele">0.80708</td>
|
||
<td class="popfreq_alt_allele">0.038091</td>
|
||
<td class="popfreq_alt_allele">0.154829</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">6382</td>
|
||
<td class="popfreq_ref_allele">C=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=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">4526</td>
|
||
<td class="popfreq_ref_allele">C=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=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">1856</td>
|
||
<td class="popfreq_ref_allele">C=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=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/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">508</td>
|
||
<td class="popfreq_ref_allele">C=0.984</td>
|
||
<td class="popfreq_alt_allele">T=0.016</td>
|
||
<td class="popfreq_alt_allele">0.968504</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.031496</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1098</td>
|
||
<td class="popfreq_ref_allele">C=0.9982</td>
|
||
<td class="popfreq_alt_allele">T=0.0018</td>
|
||
<td class="popfreq_alt_allele">0.996357</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.003643</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">286</td>
|
||
<td class="popfreq_ref_allele">C=1.000</td>
|
||
<td class="popfreq_alt_allele">T=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">10868</td>
|
||
<td class="popfreq_ref_allele">C=0.99512</td>
|
||
<td class="popfreq_alt_allele">T=0.00488</td>
|
||
<td class="popfreq_alt_allele">0.992271</td>
|
||
<td class="popfreq_alt_allele">0.002024</td>
|
||
<td class="popfreq_alt_allele">0.005705</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/rs1050828/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/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">1051957</td>
|
||
<td>C=0.9964647</td>
|
||
<td>T=0.0035353</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
European
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">882491</td>
|
||
<td>C=0.999938</td>
|
||
<td>T=0.000062</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
South Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">54137</td>
|
||
<td>C=0.99970</td>
|
||
<td>T=0.00030</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">35207</td>
|
||
<td>C=0.99511</td>
|
||
<td>T=0.00489</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
East Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">30204</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">26398</td>
|
||
<td>C=0.86901</td>
|
||
<td>T=0.13099</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Ashkenazi Jewish
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">19385</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Middle Eastern
|
||
|
||
</td>
|
||
<td>sub</td>
|
||
<td class="samp_s">4135</td>
|
||
<td>C=0.9956</td>
|
||
<td>T=0.0044</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA400167">TopMed</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">264690</td>
|
||
<td>C=0.961627</td>
|
||
<td>T=0.038373</td>
|
||
</tr>
|
||
|
||
|
||
<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">192568</td>
|
||
<td>C=0.993971</td>
|
||
<td>T=0.006029</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">164198</td>
|
||
<td>C=0.999842</td>
|
||
<td>T=0.000158</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">10868</td>
|
||
<td>C=0.99512</td>
|
||
<td>T=0.00488</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">9228</td>
|
||
<td>C=0.8838</td>
|
||
<td>T=0.1162</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">6382</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=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">1098</td>
|
||
<td>C=0.9982</td>
|
||
<td>T=0.0018</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">508</td>
|
||
<td>C=0.984</td>
|
||
<td>T=0.016</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">286</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">109889</td>
|
||
<td>C=0.966257</td>
|
||
<td>T=0.033743</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
European
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">59312</td>
|
||
<td>C=0.99981</td>
|
||
<td>T=0.00019</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">30814</td>
|
||
<td>C=0.88427</td>
|
||
<td>T=0.11573</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">10642</td>
|
||
<td>C=0.98788</td>
|
||
<td>T=0.01212</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
East Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3539</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
South Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2712</td>
|
||
<td>C=0.9996</td>
|
||
<td>T=0.0004</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Ashkenazi Jewish
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2651</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Middle Eastern
|
||
|
||
</td>
|
||
<td>sub</td>
|
||
<td class="samp_s">219</td>
|
||
<td>C=0.995</td>
|
||
<td>T=0.005</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07490465">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">86653</td>
|
||
<td>C=0.98849</td>
|
||
<td>T=0.01151</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Europe
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">51728</td>
|
||
<td>C=0.99981</td>
|
||
<td>T=0.00019</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">16629</td>
|
||
<td>C=0.99976</td>
|
||
<td>T=0.00024</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">9269</td>
|
||
<td>C=0.9971</td>
|
||
<td>T=0.0029</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">8415</td>
|
||
<td>C=0.8865</td>
|
||
<td>T=0.1135</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486028">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">612</td>
|
||
<td>C=0.998</td>
|
||
<td>T=0.002</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA678214">38KJPN</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN33574975">JAPANESE</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">66162</td>
|
||
<td>C=0.99998</td>
|
||
<td>T=0.00002</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>C=0.9611</td>
|
||
<td>T=0.0389</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>C=0.8660</td>
|
||
<td>T=0.1340</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>C=1.000</td>
|
||
<td>T=0.000</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>C=1.000</td>
|
||
<td>T=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>C=1.000</td>
|
||
<td>T=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>C=0.988</td>
|
||
<td>T=0.012</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>C=0.9624</td>
|
||
<td>T=0.0376</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>C=0.8654</td>
|
||
<td>T=0.1346</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>C=1.000</td>
|
||
<td>T=0.000</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>C=1.000</td>
|
||
<td>T=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>C=1.000</td>
|
||
<td>T=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>C=0.987</td>
|
||
<td>T=0.013</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>C=0.9997</td>
|
||
<td>T=0.0003</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>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA576826">Genome-wide autozygosity in Daghestan</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13013121">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">1132</td>
|
||
<td>C=0.9982</td>
|
||
<td>T=0.0018</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA576826">Genome-wide autozygosity in Daghestan</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13013126">Daghestan</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">624</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA576826">Genome-wide autozygosity in Daghestan</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13013123">Near_East</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">144</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA576826">Genome-wide autozygosity in Daghestan</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13013124">Central Asia</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">122</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA576826">Genome-wide autozygosity in Daghestan</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13013127">Europe</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">108</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA576826">Genome-wide autozygosity in Daghestan</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13013122">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">98</td>
|
||
<td>C=0.98</td>
|
||
<td>T=0.02</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA576826">Genome-wide autozygosity in Daghestan</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13013125">Caucasus</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">36</td>
|
||
<td>C=1.00</td>
|
||
<td>T=0.00</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10820145">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">1094</td>
|
||
<td>C=0.9095</td>
|
||
<td>T=0.0905</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10821181">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">690</td>
|
||
<td>C=0.878</td>
|
||
<td>T=0.122</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10821182">American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">316</td>
|
||
<td>C=0.953</td>
|
||
<td>T=0.047</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10821184">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">88</td>
|
||
<td>C=1.00</td>
|
||
<td>T=0.00</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>C=0.981</td>
|
||
<td>T=0.019</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">70</td>
|
||
<td>C=1.00</td>
|
||
<td>T=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">4</td>
|
||
<td>C=0.2</td>
|
||
<td>T=0.8</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.154536002C>T</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr X fix patch HG1497_PATCH</td>
|
||
<td>NW_003871103.3:g.1969981C>T</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>G6PD RefSeqGene</td>
|
||
<td>NG_009015.2:g.16571G>A</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr X</td>
|
||
<td>NC_000023.10:g.153764217C>T</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.292G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">G</span><span class="codon-ghost">TG</span><span class="codon-plain">] > M [</span><span class="codon-hilite">A</span><span class="codon-ghost">TG</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.Val98Met
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > M (Met)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>G6PD transcript variant 3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001360016.2:c.202G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">G</span><span class="codon-ghost">TG</span><span class="codon-plain">] > M [</span><span class="codon-hilite">A</span><span class="codon-ghost">TG</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.Val68Met
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > M (Met)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>G6PD transcript variant 2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001042351.3:c.202G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">G</span><span class="codon-ghost">TG</span><span class="codon-plain">] > M [</span><span class="codon-hilite">A</span><span class="codon-ghost">TG</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.Val68Met
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > M (Met)
|
||
|
||
</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: T (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(25400[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
25400
|
||
</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/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/RCV000011157.10">RCV000011157.10</a>
|
||
</td>
|
||
<td>G6PD ASAHI</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/RCV000079404.39">RCV000079404.39</a>
|
||
</td>
|
||
<td>Anemia, nonspherocytic hemolytic, due to G6PD deficiency</td>
|
||
<td>Pathogenic-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/RCV000224469.49">RCV000224469.49</a>
|
||
</td>
|
||
<td>not provided</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/RCV000606259.14">RCV000606259.14</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/RCV000999820.15">RCV000999820.15</a>
|
||
</td>
|
||
<td>not specified</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/RCV001095679.10">RCV001095679.10</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/RCV001267358.12">RCV001267358.12</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/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/RCV002305706.10">RCV002305706.10</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/RCV002305806.10">RCV002305806.10</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/RCV002305821.10">RCV002305821.10</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/RCV003460495.2">RCV003460495.2</a>
|
||
</td>
|
||
<td>Malaria, susceptibility to</td>
|
||
<td>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>
|
||
C=
|
||
</th>
|
||
|
||
<th>
|
||
T
|
||
</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.154536002=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.11:g.154536002C>T
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr X fix patch HG1497_PATCH
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NW_003871103.3:g.1969981=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NW_003871103.3:g.1969981C>T
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD RefSeqGene
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_009015.2:g.16571=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_009015.2:g.16571G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.4:c.292=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.4:c.292G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.3:c.292=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000402.3:c.292G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.3:c.202=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.3:c.202G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.2:c.202=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.2:c.202G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.1:c.202=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001042351.1:c.202G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 3
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.2:c.202=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.2:c.202G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
G6PD transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.1:c.202=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001360016.1:c.202G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr X
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.10:g.153764217=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000023.10:g.153764217C>T
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
glucose-6-phosphate 1-dehydrogenase isoform a
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000393.4:p.Val98=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000393.4:p.Val98Met
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
glucose-6-phosphate 1-dehydrogenase isoform b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001035810.1:p.Val68=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001035810.1:p.Val68Met
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
glucose-6-phosphate 1-dehydrogenase isoform b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001346945.1:p.Val68=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001346945.1:p.Val68Met
|
||
</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">
|
||
|
||
89 SubSNP,
|
||
|
||
15 Frequency,
|
||
|
||
15 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=ss1525829">ss1525829</a>
|
||
|
||
</td>
|
||
<td>Oct 05, 2000
|
||
(86)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</td>
|
||
<td>
|
||
|
||
TSC-CSHL
|
||
|
||
</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=ss2776420">ss2776420</a>
|
||
|
||
</td>
|
||
<td>Jan 12, 2001
|
||
(98)
|
||
</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=ss3526125">ss3526125</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=ss4416359">ss4416359</a>
|
||
|
||
</td>
|
||
<td>May 29, 2002
|
||
(106)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</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=ss43567477">ss43567477</a>
|
||
|
||
</td>
|
||
<td>Mar 14, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>6</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=ss65724716">ss65724716</a>
|
||
|
||
</td>
|
||
<td>Oct 15, 2006
|
||
(127)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</td>
|
||
<td>
|
||
|
||
PERLEGEN
|
||
|
||
</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=ss69268808">ss69268808</a>
|
||
|
||
</td>
|
||
<td>May 17, 2007
|
||
(127)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</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=ss74896037">ss74896037</a>
|
||
|
||
</td>
|
||
<td>Dec 06, 2007
|
||
(129)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</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=ss76822035">ss76822035</a>
|
||
|
||
</td>
|
||
<td>Dec 06, 2007
|
||
(129)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>10</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=ss105436777">ss105436777</a>
|
||
|
||
</td>
|
||
<td>Feb 05, 2009
|
||
(130)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>11</td>
|
||
<td>
|
||
|
||
KRIBB_YJKIM
|
||
|
||
</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=ss119380414">ss119380414</a>
|
||
|
||
</td>
|
||
<td>Dec 01, 2009
|
||
(131)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>12</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=ss170284181">ss170284181</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=ss244239868">ss244239868</a>
|
||
|
||
</td>
|
||
<td>Aug 29, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>14</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=ss244269443">ss244269443</a>
|
||
|
||
</td>
|
||
<td>Jul 04, 2010
|
||
(132)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>15</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=ss289479898">ss289479898</a>
|
||
|
||
</td>
|
||
<td>Jan 06, 2011
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>16</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=ss341909270">ss341909270</a>
|
||
|
||
</td>
|
||
<td>May 09, 2011
|
||
(134)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>17</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=ss342562469">ss342562469</a>
|
||
|
||
</td>
|
||
<td>May 09, 2011
|
||
(134)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>18</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=ss491206107">ss491206107</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>19</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=ss491580928">ss491580928</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>20</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=ss535291048">ss535291048</a>
|
||
|
||
</td>
|
||
<td>Sep 11, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>21</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=ss780769156">ss780769156</a>
|
||
|
||
</td>
|
||
<td>Sep 11, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>22</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=ss783448693">ss783448693</a>
|
||
|
||
</td>
|
||
<td>Sep 11, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>23</td>
|
||
<td>
|
||
|
||
HAMMER_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=ss1397803189">ss1397803189</a>
|
||
|
||
</td>
|
||
<td>Sep 08, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>24</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=ss1556698428">ss1556698428</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>25</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=ss1641785238">ss1641785238</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>26</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=ss1684779271">ss1684779271</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>27</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=ss1694662859">ss1694662859</a>
|
||
|
||
</td>
|
||
<td>Apr 09, 2015
|
||
(144)
|
||
</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=ss1752801569">ss1752801569</a>
|
||
|
||
</td>
|
||
<td>Sep 11, 2015
|
||
(146)
|
||
</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=ss1917720706">ss1917720706</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>30</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=ss1939852053">ss1939852053</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>31</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=ss1945981462">ss1945981462</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</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=ss1945981463">ss1945981463</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</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=ss1958229249">ss1958229249</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>34</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=ss1958229250">ss1958229250</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>35</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=ss1958229251">ss1958229251</a>
|
||
|
||
</td>
|
||
<td>Feb 17, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>36</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=ss2321325455">ss2321325455</a>
|
||
|
||
</td>
|
||
<td>Dec 20, 2016
|
||
(150)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>37</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=ss2634991678">ss2634991678</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>38</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=ss2711191350">ss2711191350</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=ss2711191351">ss2711191351</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>40</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=ss2745625097">ss2745625097</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>41</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=ss2746166256">ss2746166256</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>42</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=ss2984756238">ss2984756238</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>43</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=ss2985493634">ss2985493634</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>44</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=ss2986139342">ss2986139342</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=ss3023047882">ss3023047882</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</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=ss3023047883">ss3023047883</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>47</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=ss3023047884">ss3023047884</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>48</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=ss3023047885">ss3023047885</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>49</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=ss3626004431">ss3626004431</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>50</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=ss3630501805">ss3630501805</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>51</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=ss3630501806">ss3630501806</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>52</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=ss3635263276">ss3635263276</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>53</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=ss3638884589">ss3638884589</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>54</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=ss3640970747">ss3640970747</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>55</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=ss3643807983">ss3643807983</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>56</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=ss3645020375">ss3645020375</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>57</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=ss3645020376">ss3645020376</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>58</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=ss3653606150">ss3653606150</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>59</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=ss3653606151">ss3653606151</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>60</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=ss3653606152">ss3653606152</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>61</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=ss3653606153">ss3653606153</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>62</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=ss3654261385">ss3654261385</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>63</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=ss3726710877">ss3726710877</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>64</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=ss3744335275">ss3744335275</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>65</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=ss3744602555">ss3744602555</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>66</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=ss3745563780">ss3745563780</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>67</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=ss3773055386">ss3773055386</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>68</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=ss3823525348">ss3823525348</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>69</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=ss3825516090">ss3825516090</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>70</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=ss3825981210">ss3825981210</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>71</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=ss3892536831">ss3892536831</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>72</td>
|
||
<td>
|
||
|
||
NORTHRUP_AU
|
||
|
||
</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=ss3983910036">ss3983910036</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>73</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=ss3985974749">ss3985974749</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>74</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=ss3986888539">ss3986888539</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>75</td>
|
||
<td>
|
||
|
||
TOMMO_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=ss6205662191">ss6205662191</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>76</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=ss6403997835">ss6403997835</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>77</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=ss6473687220">ss6473687220</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>78</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=ss8141613484">ss8141613484</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>79</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=ss8314364537">ss8314364537</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>80</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=ss8505716671">ss8505716671</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>81</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=ss8512474066">ss8512474066</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>82</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=ss8623703436">ss8623703436</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>83</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=ss8624741788">ss8624741788</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>84</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=ss8666098071">ss8666098071</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>85</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=ss8848241675">ss8848241675</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>86</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=ss8848748610">ss8848748610</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>87</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=ss8979248006">ss8979248006</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>88</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=ss8979924781">ss8979924781</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>89</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=ss10110230702">ss10110230702</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>90</td>
|
||
<td>
|
||
|
||
1000Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153764217
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>91</td>
|
||
<td>
|
||
|
||
1000Genomes_30X
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154536002
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>92</td>
|
||
<td>
|
||
|
||
The Avon Longitudinal Study of Parents and Children
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153764217
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>93</td>
|
||
<td>
|
||
|
||
Genome-wide autozygosity in Daghestan
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.9 - 153417411
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>94</td>
|
||
<td>
|
||
|
||
ExAC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153764217
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>95</td>
|
||
<td>
|
||
|
||
gnomAD v4 - Exomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154536002
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>96</td>
|
||
<td>
|
||
|
||
gnomAD v4 - Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154536002
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>97</td>
|
||
<td>
|
||
|
||
HapMap
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154536002
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>98</td>
|
||
<td>
|
||
|
||
Ancient Sardinia genome-wide 1240k capture data generation and analysis
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153764217
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>99</td>
|
||
<td>
|
||
|
||
Qatari
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153764217
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>100</td>
|
||
<td>
|
||
|
||
SGDP_PRJ
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153764217
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>101</td>
|
||
<td>
|
||
|
||
38KJPN
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154536002
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>102</td>
|
||
<td>
|
||
|
||
TopMed
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154536002
|
||
|
||
</td>
|
||
<td>Apr 27, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>103</td>
|
||
<td>
|
||
|
||
UK 10K study - Twins
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.10 - 153764217
|
||
|
||
</td>
|
||
<td>Oct 13, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>104</td>
|
||
<td>
|
||
|
||
ALFA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000023.11 - 154536002
|
||
|
||
</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/RCV000011075.24/">RCV000011075.24</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/RCV000011157.10/">RCV000011157.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>107</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/RCV000079404.39/">RCV000079404.39</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>108</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/RCV000224469.49/">RCV000224469.49</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>109</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/RCV000606259.14/">RCV000606259.14</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>110</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/RCV000999820.15/">RCV000999820.15</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>111</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/RCV001095679.10/">RCV001095679.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>112</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/RCV001267358.12/">RCV001267358.12</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>113</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>114</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/RCV002305706.10/">RCV002305706.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>115</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>116</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/RCV002305806.10/">RCV002305806.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>117</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>118</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/RCV002305821.10/">RCV002305821.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>119</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/RCV003460495.2/">RCV003460495.2</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="rs1894404">rs1894404</a>
|
||
</td>
|
||
<td>Aug 15, 2001
|
||
(98)
|
||
</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="rs2230034">rs2230034</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="rs3191188">rs3191188</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>
|
||
|
||
554595,
|
||
|
||
ss76822035,
|
||
|
||
ss1397803189,
|
||
|
||
ss3643807983
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.9:153417410:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154536001:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
84651645,
|
||
|
||
46612249,
|
||
|
||
10174709,
|
||
|
||
1200676,
|
||
|
||
21893975,
|
||
|
||
44553811,
|
||
|
||
46612249,
|
||
|
||
ss341909270,
|
||
|
||
ss342562469,
|
||
|
||
ss491206107,
|
||
|
||
ss491580928,
|
||
|
||
ss535291048,
|
||
|
||
ss780769156,
|
||
|
||
ss783448693,
|
||
|
||
ss1556698428,
|
||
|
||
ss1641785238,
|
||
|
||
ss1684779271,
|
||
|
||
ss1694662859,
|
||
|
||
ss1752801569,
|
||
|
||
ss1917720706,
|
||
|
||
ss1939852053,
|
||
|
||
ss1945981462,
|
||
|
||
ss1945981463,
|
||
|
||
ss1958229249,
|
||
|
||
ss1958229250,
|
||
|
||
ss1958229251,
|
||
|
||
ss2634991678,
|
||
|
||
ss2711191350,
|
||
|
||
ss2711191351,
|
||
|
||
ss2745625097,
|
||
|
||
ss2746166256,
|
||
|
||
ss2984756238,
|
||
|
||
ss2985493634,
|
||
|
||
ss2986139342,
|
||
|
||
ss3023047882,
|
||
|
||
ss3023047883,
|
||
|
||
ss3023047884,
|
||
|
||
ss3023047885,
|
||
|
||
ss3626004431,
|
||
|
||
ss3630501805,
|
||
|
||
ss3630501806,
|
||
|
||
ss3635263276,
|
||
|
||
ss3638884589,
|
||
|
||
ss3640970747,
|
||
|
||
ss3645020375,
|
||
|
||
ss3645020376,
|
||
|
||
ss3653606150,
|
||
|
||
ss3653606151,
|
||
|
||
ss3653606152,
|
||
|
||
ss3653606153,
|
||
|
||
ss3654261385,
|
||
|
||
ss3744335275,
|
||
|
||
ss3744602555,
|
||
|
||
ss3745563780,
|
||
|
||
ss3773055386,
|
||
|
||
ss3825516090,
|
||
|
||
ss3825981210,
|
||
|
||
ss3892536831,
|
||
|
||
ss3983910036,
|
||
|
||
ss3985974749,
|
||
|
||
ss3986888539,
|
||
|
||
ss6403997835,
|
||
|
||
ss8512474066,
|
||
|
||
ss8624741788,
|
||
|
||
ss8666098071,
|
||
|
||
ss8848241675,
|
||
|
||
ss8848748610,
|
||
|
||
ss8979248006,
|
||
|
||
ss8979924781
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.10:153764216:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154536001:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000011075.24,
|
||
|
||
RCV000011157.10,
|
||
|
||
RCV000079404.39,
|
||
|
||
RCV000224469.49,
|
||
|
||
RCV000606259.14,
|
||
|
||
RCV000999820.15,
|
||
|
||
RCV001095679.10,
|
||
|
||
RCV001267358.12,
|
||
|
||
RCV002305425.11,
|
||
|
||
RCV002305706.10,
|
||
|
||
RCV002305732.10,
|
||
|
||
RCV002305806.10,
|
||
|
||
RCV002305807.10,
|
||
|
||
RCV002305821.10,
|
||
|
||
RCV003460495.2,
|
||
|
||
111229371,
|
||
|
||
69040758,
|
||
|
||
638031228,
|
||
|
||
4058863,
|
||
|
||
223038011,
|
||
|
||
705219841,
|
||
|
||
11360421017,
|
||
|
||
ss244239868,
|
||
|
||
ss289479898,
|
||
|
||
ss2321325455,
|
||
|
||
ss3726710877,
|
||
|
||
ss3823525348,
|
||
|
||
ss6205662191,
|
||
|
||
ss6473687220,
|
||
|
||
ss8141613484,
|
||
|
||
ss8314364537,
|
||
|
||
ss8505716671,
|
||
|
||
ss8623703436,
|
||
|
||
ss10110230702
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154536001:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154536001:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss1525829,
|
||
|
||
ss2776420,
|
||
|
||
ss3526125,
|
||
|
||
ss4416359,
|
||
|
||
ss43567477,
|
||
|
||
ss65724716,
|
||
|
||
ss69268808,
|
||
|
||
ss74896037,
|
||
|
||
ss105436777,
|
||
|
||
ss119380414,
|
||
|
||
ss170284181,
|
||
|
||
ss244269443
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NT_167198.1:4682154:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000023.11:154536001:C:T
|
||
|
||
|
||
</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">
|
||
74
|
||
citations for rs1050828
|
||
</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/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/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/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>
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||
<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/28771511"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">28771511</a>
|
||
</td>
|
||
<td class="fir_col">Exploring public genomics data for population pharmacogenomics.</td>
|
||
<td>Lakiotaki K et al.</td>
|
||
<td>2017</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/29522974"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">29522974</a>
|
||
</td>
|
||
<td class="fir_col">Genetics of HbA1c: a case study in clinical translation.</td>
|
||
<td>Leong A et al.</td>
|
||
<td>2018</td>
|
||
<td>Current opinion in genetics & development</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/29931457"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">29931457</a>
|
||
</td>
|
||
<td class="fir_col">Impact of Genetic Determinants of HbA1c on Type 2 Diabetes Risk and Diagnosis.</td>
|
||
<td>Sarnowski C et al.</td>
|
||
<td>2018</td>
|
||
<td>Current diabetes reports</td>
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</tr>
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|
||
<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>
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||
<td>2019</td>
|
||
<td>Malaria journal</td>
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</tr>
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||
<tr>
|
||
<td><a target="_blank" href="/pubmed/31019283"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">31019283</a>
|
||
</td>
|
||
<td class="fir_col">Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.</td>
|
||
<td>Thauvin-Robinet C et al.</td>
|
||
<td>2019</td>
|
||
<td>European journal of human genetics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/31213470"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">31213470</a>
|
||
</td>
|
||
<td class="fir_col">A Genome-Wide Association Study Identifies Blood Disorder-Related Variants Influencing Hemoglobin A(1c) With Implications for Glycemic Status in U.S. Hispanics/Latinos.</td>
|
||
<td>Moon JY et al.</td>
|
||
<td>2019</td>
|
||
<td>Diabetes care</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/31564435"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">31564435</a>
|
||
</td>
|
||
<td class="fir_col">Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program.</td>
|
||
<td>Sarnowski C et al.</td>
|
||
<td>2019</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/32536341"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">32536341</a>
|
||
</td>
|
||
<td class="fir_col">Risk of pneumococcal bacteremia in Kenyan children with glucose-6-phosphate dehydrogenase deficiency.</td>
|
||
<td>Gilchrist JJ et al.</td>
|
||
<td>2020</td>
|
||
<td>BMC medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/32577690"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">32577690</a>
|
||
</td>
|
||
<td class="fir_col">G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.</td>
|
||
<td>da Rocha J et al.</td>
|
||
<td>2020</td>
|
||
<td>medRxiv </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/32641076"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">32641076</a>
|
||
</td>
|
||
<td class="fir_col">Exome sequencing for diagnosis of congenital hemolytic anemia.</td>
|
||
<td>Mansour-Hendili L et al.</td>
|
||
<td>2020</td>
|
||
<td>Orphanet journal of rare diseases</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"
|
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data-section="Publications" data-ga-action="Click-on"
|
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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/34093240"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">34093240</a>
|
||
</td>
|
||
<td class="fir_col">Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.</td>
|
||
<td>Fermo E et al.</td>
|
||
<td>2021</td>
|
||
<td>Frontiers in physiology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/34125832"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
|
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data-ga-label="PMID_link">34125832</a>
|
||
</td>
|
||
<td class="fir_col">Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.</td>
|
||
<td>Borda V et al.</td>
|
||
<td>2021</td>
|
||
<td>PLoS neglected tropical diseases</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/34302047"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
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data-ga-label="PMID_link">34302047</a>
|
||
</td>
|
||
<td class="fir_col">G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.</td>
|
||
<td>da Rocha JEB et al.</td>
|
||
<td>2021</td>
|
||
<td>The pharmacogenomics journal</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/34316407"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">34316407</a>
|
||
</td>
|
||
<td class="fir_col">Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants.</td>
|
||
<td>McConnell H et al.</td>
|
||
<td>2021</td>
|
||
<td>PeerJ</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/34577605"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">34577605</a>
|
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</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/34996340"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-ga-label="PMID_link">34996340</a>
|
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</td>
|
||
<td class="fir_col">Associations between the TNMD rs4828038 and ACE2 rs879922 polymorphisms and preeclampsia susceptibility: a case-control study.</td>
|
||
<td>Song W et al.</td>
|
||
<td>2022</td>
|
||
<td>Journal of obstetrics and gynaecology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/35811813"
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data-ga-label="PMID_link">35811813</a>
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</td>
|
||
<td class="fir_col">G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria.</td>
|
||
<td>Thiam F et al.</td>
|
||
<td>2022</td>
|
||
<td>PeerJ</td>
|
||
</tr>
|
||
|
||
<tr>
|
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<td><a target="_blank" href="/pubmed/36164570"
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data-ga-label="PMID_link">36164570</a>
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</td>
|
||
<td class="fir_col">Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard.</td>
|
||
<td>Alshabeeb MA et al.</td>
|
||
<td>2022</td>
|
||
<td>Saudi pharmaceutical journal </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/36479490"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-ga-label="PMID_link">36479490</a>
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</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>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/37588055"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-ga-label="PMID_link">37588055</a>
|
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</td>
|
||
<td class="fir_col">Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.</td>
|
||
<td>Reis BCSD et al.</td>
|
||
<td>2023</td>
|
||
<td>Frontiers in cellular and infection microbiology</td>
|
||
</tr>
|
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|
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</tbody>
|
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</table>
|
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|
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</div>
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<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
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href="/pubmed?term=5448,669721,903703,1303173,1978554,2253938,2503817,2572288,2836867,2912886,3393536,4388132,5492291,7106752,7291768,10734064,11852882,15183620,19112496,19223928,19465909,19690618,20459687,20556870,21153663,21515823,21867552,21929748,21931645,21931771,22438807,22615793,22957039,22992668,23144702,23446634,23614351,23696099,23757202,24101478,24934404,24944790,24987407,25741868,25805752,26738565,27413522,27767381,28067620,28541483,28771511,29522974,29931457,30819192,31019283,31213470,31564435,32536341,32577690,32641076,32936528,33170161,33875422,33897764,34093240,34125832,34302047,34316407,34577605,34996340,35811813,36164570,36479490,37588055"
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<div id="flanks" class="js-tabcontent">
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<a data-width="640px" href="#flanks_tp"
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ref="section=Flanks&action=Click-on-Tooltip&label=flanks_tp"
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<p id="flanks_tp">The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.</p>
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<div id="flanks_container">
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<div id="context_container">
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<span class="sect_heading">
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Genome context:
|
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</span>
|
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|
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<select id="flank_context">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
seq_acc_ver="NC_000023.11" position="154536002"
|
||
assmacc="GCF_000001405.40" ref_allele="C"
|
||
variant_type="snv">
|
||
|
||
GRCh38.p14 ( NC_000023.11 )
|
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|
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</option>
|
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|
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<option value="option2"
|
||
|
||
seq_acc_ver="NW_003871103.3" position="1969981"
|
||
assmacc="GCF_000001405.25" ref_allele="C"
|
||
variant_type="snv">
|
||
|
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GRCh37.p13 ( NW_003871103.3 )
|
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|
||
</option>
|
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|
||
<option value="option3"
|
||
|
||
seq_acc_ver="NG_009015.2" position="16571"
|
||
assmacc="" ref_allele="C"
|
||
variant_type="snv">
|
||
|
||
NG_009015.2
|
||
|
||
</option>
|
||
|
||
<option value="option4"
|
||
|
||
seq_acc_ver="NC_000023.10" position="153764217"
|
||
assmacc="GCF_000001405.25" ref_allele="C"
|
||
variant_type="snv">
|
||
|
||
GRCh37.p13 ( NC_000023.10 )
|
||
|
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</option>
|
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|
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</select>
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</div>
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|
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<span class="sect_heading">
|
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Select flank length:
|
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</span>
|
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<select id="flank_length">
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<option value="25"
|
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selected="selected">
|
||
25 nt</option>
|
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|
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<option value="50"
|
||
>
|
||
50 nt</option>
|
||
|
||
<option value="100"
|
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>
|
||
100 nt</option>
|
||
|
||
<option value="200"
|
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>
|
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200 nt</option>
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|
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</select>
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<button id="retrieve_flank" class="usa-button-outline" type="button">Retrieve</button>
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<div id="flanking_sequence">
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</div>
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|
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</div>
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</div>
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<div class="usa-row">
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<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
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||
<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>
|
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</h3>
|
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<div id="sequence">
|
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<div id="seq_div" class="usa-width-one-whole">
|
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<label for="seq_sel">Choose placement</label>
|
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<select id="seq_sel">
|
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<option value="option1"
|
||
selected="selected"
|
||
data-svparams="id=NC_000023.11&assm_context=GCF_000001405.40&v=154535952.0:154536052.0&mk=154536002|rs1050828!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="1050828">
|
||
|
||
GRCh38.p14 ( NC_000023.11 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
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|
||
data-svparams="id=NW_003871103.3&assm_context=GCF_000001405.25&v=1969931.0:1970031.0&mk=1969981|rs1050828!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="1050828">
|
||
|
||
GRCh37.p13 ( NW_003871103.3 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
data-svparams="id=NG_009015.2&assm_context=&v=16521.0:16621.0&mk=16571|rs1050828!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="1050828">
|
||
|
||
NG_009015.2
|
||
|
||
</option>
|
||
|
||
<option value="option4"
|
||
|
||
data-svparams="id=NC_000023.10&assm_context=GCF_000001405.25&v=153764167.0:153764267.0&mk=153764217|rs1050828!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="1050828">
|
||
|
||
GRCh37.p13 ( NC_000023.10 )
|
||
|
||
</option>
|
||
|
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</select>
|
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<div class="align-right">
|
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|
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|
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|
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|
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<button title="see rs1050828 and neighboring variants in Variation Viewer"
|
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class="usa-button-outline" id="variation_viewer_btn" type="button">See rs1050828
|
||
in Variation Viewer
|
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|
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|
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|
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|
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|
||
<!--<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> |