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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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<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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<ul class="utilities usa-unstyled-list align-right">
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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/>
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Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.<br/>
|
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All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. <br/>
|
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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-width-two-thirds">
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<div class="blue-box">
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<h2 id="refsnp_id">rs9332131</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
|
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|
||
</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>chr10:94949282-94949283 </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>
|
||
|
||
|
||
delA / dupA
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
Indel
|
||
|
||
|
||
|
||
<span class="small-font gray">Insertion and Deletion</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div>
|
||
delA=0.0003817
|
||
(533/1396472, GnomAD_exomes)
|
||
</div><div>
|
||
delA=0.003748
|
||
(992/264690, TOPMED)
|
||
</div><span>
|
||
delA=0.003157 (471/149204, GnomAD_genomes)
|
||
</span><span>(<a id="expandfrequency" data-freq-remn="7"
|
||
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">+ 7 more</a>)</span><div class="ui-widget hide_elm" id="remn_summ_freq"><div>
|
||
delA=0.000945
|
||
(114/120632, ExAC)
|
||
</div><div>
|
||
delA=0.00038
|
||
(34/88472, ALFA)
|
||
</div><div>
|
||
delA=0.00520
|
||
(409/78698, PAGE_STUDY)
|
||
</div><div>
|
||
delA=0.00001
|
||
(1/77418, 38KJPN)
|
||
</div><div>
|
||
delA=0.00376
|
||
(47/12516, GO-ESP)
|
||
</div><div>
|
||
delA=0.0025
|
||
(16/6404, 1000G_30X)
|
||
</div><div>
|
||
delA=0.0022
|
||
(11/5008, 1000G)
|
||
</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=((269838[AlleleID]))">ClinVar</a>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Gene : Consequence</dt>
|
||
<dd>
|
||
|
||
<span>CYP2C9 : Frameshift Variant</span>
|
||
|
||
</dd>
|
||
|
||
<dt>Publications</dt>
|
||
<dd>
|
||
|
||
<a id="snp_pub_count" href="#publications">28
|
||
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">88472</td>
|
||
<td class="popfreq_ref_allele">AA=0.99962</td>
|
||
<td class="popfreq_alt_allele">A=0.00038, AAA=0.00000</td>
|
||
<td class="popfreq_alt_allele">0.999231</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.000769</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492695">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">75456</td>
|
||
<td class="popfreq_ref_allele">AA=1.00000</td>
|
||
<td class="popfreq_alt_allele">A=0.00000, AAA=0.00000</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/SAMN10492703">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4292</td>
|
||
<td class="popfreq_ref_allele">AA=0.9928</td>
|
||
<td class="popfreq_alt_allele">A=0.0072, AAA=0.0000</td>
|
||
<td class="popfreq_alt_allele">0.985555</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.014445</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492696">African Others</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">174</td>
|
||
<td class="popfreq_ref_allele">AA=0.994</td>
|
||
<td class="popfreq_alt_allele">A=0.006, AAA=0.000</td>
|
||
<td class="popfreq_alt_allele">0.988506</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.011494</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492698">African American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4118</td>
|
||
<td class="popfreq_ref_allele">AA=0.9927</td>
|
||
<td class="popfreq_alt_allele">A=0.0073, AAA=0.0000</td>
|
||
<td class="popfreq_alt_allele">0.98543</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.01457</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492704">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3330</td>
|
||
<td class="popfreq_ref_allele">AA=1.0000</td>
|
||
<td class="popfreq_alt_allele">A=0.0000, AAA=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">2674</td>
|
||
<td class="popfreq_ref_allele">AA=1.0000</td>
|
||
<td class="popfreq_alt_allele">A=0.0000, AAA=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">656</td>
|
||
<td class="popfreq_ref_allele">AA=1.000</td>
|
||
<td class="popfreq_alt_allele">A=0.000, AAA=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">436</td>
|
||
<td class="popfreq_ref_allele">AA=1.000</td>
|
||
<td class="popfreq_alt_allele">A=0.000, AAA=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/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">928</td>
|
||
<td class="popfreq_ref_allele">AA=1.000</td>
|
||
<td class="popfreq_alt_allele">A=0.000, AAA=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/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">274</td>
|
||
<td class="popfreq_ref_allele">AA=1.000</td>
|
||
<td class="popfreq_alt_allele">A=0.000, AAA=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">3756</td>
|
||
<td class="popfreq_ref_allele">AA=0.9992</td>
|
||
<td class="popfreq_alt_allele">A=0.0008, AAA=0.0000</td>
|
||
<td class="popfreq_alt_allele">0.998403</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.001597</td>
|
||
<td class="popfreq_alt_allele">0</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/rs9332131/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">1396472</td>
|
||
<td>AA=0.9996183</td>
|
||
<td>delA=0.0003817</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">1162390</td>
|
||
<td>AA=0.9999243</td>
|
||
<td>delA=0.0000757</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">85626</td>
|
||
<td>AA=0.99999</td>
|
||
<td>delA=0.00001</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">44392</td>
|
||
<td>AA=0.99950</td>
|
||
<td>delA=0.00050</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">39382</td>
|
||
<td>AA=1.00000</td>
|
||
<td>delA=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">33280</td>
|
||
<td>AA=0.98738</td>
|
||
<td>delA=0.01262</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">26006</td>
|
||
<td>AA=1.00000</td>
|
||
<td>delA=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">5396</td>
|
||
<td>AA=0.9996</td>
|
||
<td>delA=0.0004</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>AA=0.996252</td>
|
||
<td>delA=0.003748</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">149204</td>
|
||
<td>AA=0.996843</td>
|
||
<td>delA=0.003157</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">78618</td>
|
||
<td>AA=0.99992</td>
|
||
<td>delA=0.00008</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">41564</td>
|
||
<td>AA=0.98920</td>
|
||
<td>delA=0.01080</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">15264</td>
|
||
<td>AA=0.99895</td>
|
||
<td>delA=0.00105</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">5174</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=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">4818</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000</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">3472</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=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">294</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000</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">120632</td>
|
||
<td>AA=0.999055</td>
|
||
<td>delA=0.000945</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Europe
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">73014</td>
|
||
<td>AA=0.99997</td>
|
||
<td>delA=0.00003</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">25018</td>
|
||
<td>AA=1.00000</td>
|
||
<td>delA=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">11398</td>
|
||
<td>AA=0.99965</td>
|
||
<td>delA=0.00035</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">10298</td>
|
||
<td>AA=0.98951</td>
|
||
<td>delA=0.01049</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">904</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000</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">88472</td>
|
||
<td>AA=0.99962</td>
|
||
<td>delA=0.00038, dupA=0.00000</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">75456</td>
|
||
<td>AA=1.00000</td>
|
||
<td>delA=0.00000, dupA=0.00000</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">4292</td>
|
||
<td>AA=0.9928</td>
|
||
<td>delA=0.0072, dupA=0.0000</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">3756</td>
|
||
<td>AA=0.9992</td>
|
||
<td>delA=0.0008, dupA=0.0000</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">3330</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000, dupA=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">928</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000, dupA=0.000</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">436</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000, dupA=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">274</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000, dupA=0.000</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868975">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">78698</td>
|
||
<td>AA=0.99480</td>
|
||
<td>delA=0.00520</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868721">AfricanAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">32514</td>
|
||
<td>AA=0.98902</td>
|
||
<td>delA=0.01098</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868735">Mexican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">10810</td>
|
||
<td>AA=0.99972</td>
|
||
<td>delA=0.00028</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868722">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">8318</td>
|
||
<td>AA=0.9999</td>
|
||
<td>delA=0.0001</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868968">PuertoRican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">7916</td>
|
||
<td>AA=0.9977</td>
|
||
<td>delA=0.0023</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868777">NativeHawaiian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4534</td>
|
||
<td>AA=0.9998</td>
|
||
<td>delA=0.0002</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868733">Cuban</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4230</td>
|
||
<td>AA=0.9993</td>
|
||
<td>delA=0.0007</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868734">Dominican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3828</td>
|
||
<td>AA=0.9943</td>
|
||
<td>delA=0.0057</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868729">CentralAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2450</td>
|
||
<td>AA=0.9992</td>
|
||
<td>delA=0.0008</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868969">SouthAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1982</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868739">NativeAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1260</td>
|
||
<td>AA=0.9984</td>
|
||
<td>delA=0.0016</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868970">SouthAsian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">856</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000</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">77418</td>
|
||
<td>AA=0.99999</td>
|
||
<td>delA=0.00001</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA192955">GO Exome Sequencing Project</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">12516</td>
|
||
<td>AA=0.99624</td>
|
||
<td>delA=0.00376</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA192955">GO Exome Sequencing Project</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
European American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">8252</td>
|
||
<td>AA=0.9999</td>
|
||
<td>delA=0.0001</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA192955">GO Exome Sequencing Project</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4264</td>
|
||
<td>AA=0.9892</td>
|
||
<td>delA=0.0108</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">6404</td>
|
||
<td>AA=0.9975</td>
|
||
<td>delA=0.0025</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">1786</td>
|
||
<td>AA=0.9910</td>
|
||
<td>delA=0.0090</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">1266</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000</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">1202</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000</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">1170</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000</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">980</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000</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">5008</td>
|
||
<td>AA=0.9978</td>
|
||
<td>delA=0.0022</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">1322</td>
|
||
<td>AA=0.9917</td>
|
||
<td>delA=0.0083</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">1008</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000</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">1006</td>
|
||
<td>AA=1.0000</td>
|
||
<td>delA=0.0000</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">978</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=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">694</td>
|
||
<td>AA=1.000</td>
|
||
<td>delA=0.000</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 10</td>
|
||
<td>NC_000010.11:g.94949283del</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 10</td>
|
||
<td>NC_000010.11:g.94949283dup</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 10</td>
|
||
<td>NC_000010.10:g.96709040del</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 10</td>
|
||
<td>NC_000010.10:g.96709040dup</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>CYP2C9 RefSeqGene (LRG_1195)</td>
|
||
<td>NG_008385.2:g.16126del</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>CYP2C9 RefSeqGene (LRG_1195)</td>
|
||
<td>NG_008385.2:g.16126dup</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/1559">CYP2C9</a>, cytochrome P450 family 2 subfamily C member 9
|
||
(plus 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>CYP2C9 transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000771.4:c.818del
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">K [</span><span class="codon-ghost">A</span><span class="codon-hilite">AG</span><span class="codon-plain">] > R [</span><span class="codon-ghost">A</span><span class="codon-hilite">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>cytochrome P450 2C9</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000762.2:p.Lys273fs
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
K (Lys) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Frameshift Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>CYP2C9 transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000771.4:c.818dup
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">K [</span><span class="codon-ghost">AA</span><span class="codon-hilite">G</span><span class="codon-plain">] > K [</span><span class="codon-ghost">AA</span><span class="codon-hilite">AG</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>cytochrome P450 2C9</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000762.2:p.Glu274fs
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
K (Lys) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Frameshift 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: delA (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(269838[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
269838
|
||
</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/RCV000363569.9">RCV000363569.9</a>
|
||
</td>
|
||
<td>not provided</td>
|
||
<td>Other,Benign-Likely-Benign</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000787932.2">RCV000787932.2</a>
|
||
</td>
|
||
<td>Flurbiprofen response</td>
|
||
<td>Drug-Response</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/RCV000788096.2">RCV000788096.2</a>
|
||
</td>
|
||
<td>Lesinurad response</td>
|
||
<td>Drug-Response</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/RCV000788102.2">RCV000788102.2</a>
|
||
</td>
|
||
<td>Piroxicam response</td>
|
||
<td>Drug-Response</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>
|
||
AA=
|
||
</th>
|
||
|
||
<th>
|
||
delA
|
||
</th>
|
||
|
||
<th>
|
||
dupA
|
||
</th>
|
||
|
||
</tr>
|
||
</thead>
|
||
<tbody class="allele_wrap">
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh38.p14 chr 10
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000010.11:g.94949282_94949283=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000010.11:g.94949283del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000010.11:g.94949283dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr 10
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000010.10:g.96709039_96709040=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000010.10:g.96709040del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000010.10:g.96709040dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
CYP2C9 RefSeqGene (LRG_1195)
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_008385.2:g.16125_16126=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_008385.2:g.16126del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_008385.2:g.16126dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
CYP2C9 transcript
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000771.4:c.817_818=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000771.4:c.818del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000771.4:c.818dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
CYP2C9 transcript
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000771.3:c.817_818=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000771.3:c.818del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000771.3:c.818dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
cytochrome P450 2C9
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000762.2:p.Lys273=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000762.2:p.Lys273fs
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000762.2:p.Glu274fs
|
||
</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">
|
||
|
||
43 SubSNP,
|
||
|
||
10 Frequency,
|
||
|
||
4 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>
|
||
|
||
EGP_SNPS
|
||
|
||
</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=ss12588510">ss12588510</a>
|
||
|
||
</td>
|
||
<td>Dec 05, 2003
|
||
(119)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</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=ss107695406">ss107695406</a>
|
||
|
||
</td>
|
||
<td>Feb 06, 2009
|
||
(130)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>3</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=ss160978127">ss160978127</a>
|
||
|
||
</td>
|
||
<td>Dec 01, 2009
|
||
(131)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>4</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=ss174814670">ss174814670</a>
|
||
|
||
</td>
|
||
<td>Jul 04, 2010
|
||
(132)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</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=ss482863012">ss482863012</a>
|
||
|
||
</td>
|
||
<td>Sep 08, 2015
|
||
(146)
|
||
</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=ss537588040">ss537588040</a>
|
||
|
||
</td>
|
||
<td>Sep 08, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</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=ss1369948495">ss1369948495</a>
|
||
|
||
</td>
|
||
<td>Aug 21, 2014
|
||
(142)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</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=ss1711945910">ss1711945910</a>
|
||
|
||
</td>
|
||
<td>Apr 01, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</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=ss1946289807">ss1946289807</a>
|
||
|
||
</td>
|
||
<td>Feb 12, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>10</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=ss1959285041">ss1959285041</a>
|
||
|
||
</td>
|
||
<td>Feb 12, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>11</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=ss2632748500">ss2632748500</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</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=ss2710717593">ss2710717593</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>13</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=ss2738421697">ss2738421697</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>14</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=ss2748441738">ss2748441738</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>15</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=ss2892146281">ss2892146281</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>16</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=ss2984920011">ss2984920011</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>17</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=ss2985568282">ss2985568282</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>18</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=ss3021264941">ss3021264941</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>19</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3021264942">ss3021264942</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</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=ss3625584983">ss3625584983</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</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=ss3626510084">ss3626510084</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</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=ss3636102367">ss3636102367</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>23</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=ss3637867330">ss3637867330</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>24</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=ss3642869395">ss3642869395</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>25</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=ss3644542553">ss3644542553</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>26</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=ss3651623366">ss3651623366</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>27</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=ss3651623367">ss3651623367</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</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=ss3653690747">ss3653690747</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</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=ss3725179538">ss3725179538</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>30</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3744074674">ss3744074674</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>31</td>
|
||
<td>
|
||
|
||
PAGE_CC
|
||
|
||
</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=ss3771575744">ss3771575744</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>32</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=ss3813836694">ss3813836694</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>33</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=ss3824541081">ss3824541081</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>34</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=ss4862683981">ss4862683981</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>35</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=ss6114217636">ss6114217636</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>36</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss6440427590">ss6440427590</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>37</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=ss6859927329">ss6859927329</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>38</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=ss8285093540">ss8285093540</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>39</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=ss8480552153">ss8480552153</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>40</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=ss8579573677">ss8579573677</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>41</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=ss8624255738">ss8624255738</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>42</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=ss8649889222">ss8649889222</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>43</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=ss8745196292">ss8745196292</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>44</td>
|
||
<td>
|
||
|
||
1000Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.10 - 96709039
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>45</td>
|
||
<td>
|
||
|
||
1000Genomes_30X
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.11 - 94949282
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>46</td>
|
||
<td>
|
||
|
||
ExAC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.10 - 96709039
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>47</td>
|
||
<td>
|
||
|
||
gnomAD v4 - Exomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.11 - 94949282
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>48</td>
|
||
<td>
|
||
|
||
gnomAD v4 - Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.11 - 94949282
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>49</td>
|
||
<td>
|
||
|
||
GO Exome Sequencing Project
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.10 - 96709039
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>50</td>
|
||
<td>
|
||
|
||
The PAGE Study
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.11 - 94949282
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>51</td>
|
||
<td>
|
||
|
||
38KJPN
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.11 - 94949282
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>52</td>
|
||
<td>
|
||
|
||
TopMed
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.11 - 94949282
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>53</td>
|
||
<td>
|
||
|
||
ALFA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000010.11 - 94949282
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>54</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/RCV000363569.9/">RCV000363569.9</a>
|
||
|
||
</td>
|
||
<td>Nov 01, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>55</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/RCV000787932.2/">RCV000787932.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>56</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/RCV000788096.2/">RCV000788096.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>57</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/RCV000788102.2/">RCV000788102.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</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="rs386621785">rs386621785</a>
|
||
</td>
|
||
<td>Aug 21, 2014
|
||
(142)
|
||
</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>
|
||
|
||
ss160978127,
|
||
|
||
ss3642869395
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.9:96699028:A:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
51061864,
|
||
|
||
242239,
|
||
|
||
998762,
|
||
|
||
ss482863012,
|
||
|
||
ss537588040,
|
||
|
||
ss1369948495,
|
||
|
||
ss1711945910,
|
||
|
||
ss1946289807,
|
||
|
||
ss1959285041,
|
||
|
||
ss2632748500,
|
||
|
||
ss2710717593,
|
||
|
||
ss2738421697,
|
||
|
||
ss2748441738,
|
||
|
||
ss2892146281,
|
||
|
||
ss2984920011,
|
||
|
||
ss2985568282,
|
||
|
||
ss3021264941,
|
||
|
||
ss3021264942,
|
||
|
||
ss3625584983,
|
||
|
||
ss3626510084,
|
||
|
||
ss3636102367,
|
||
|
||
ss3637867330,
|
||
|
||
ss3644542553,
|
||
|
||
ss3651623366,
|
||
|
||
ss3651623367,
|
||
|
||
ss3653690747,
|
||
|
||
ss3744074674,
|
||
|
||
ss3824541081,
|
||
|
||
ss8624255738,
|
||
|
||
ss8649889222
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.10:96709038:A:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
67099612,
|
||
|
||
35749430,
|
||
|
||
387063114,
|
||
|
||
797213,
|
||
|
||
131593456,
|
||
|
||
78229636,
|
||
|
||
ss3725179538,
|
||
|
||
ss3771575744,
|
||
|
||
ss3813836694,
|
||
|
||
ss4862683981,
|
||
|
||
ss6114217636,
|
||
|
||
ss6440427590,
|
||
|
||
ss6859927329,
|
||
|
||
ss8285093540,
|
||
|
||
ss8480552153,
|
||
|
||
ss8579573677,
|
||
|
||
ss8745196292
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:A:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000363569.9,
|
||
|
||
RCV000787932.2,
|
||
|
||
RCV000788096.2,
|
||
|
||
RCV000788102.2,
|
||
|
||
9848865691
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss12588510,
|
||
|
||
ss107695406,
|
||
|
||
ss174814670
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NT_030059.13:47513502:A:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
9848865691
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:AAA
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000010.11:94949281:AA:AAA
|
||
|
||
|
||
</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">
|
||
28
|
||
citations for rs9332131
|
||
</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/18466099"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18466099</a>
|
||
</td>
|
||
<td class="fir_col">Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans.</td>
|
||
<td>Limdi NA et al.</td>
|
||
<td>2008</td>
|
||
<td>Pharmacogenomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18752379"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18752379</a>
|
||
</td>
|
||
<td class="fir_col">Warfarin pharmacogenetics.</td>
|
||
<td>Limdi NA et al.</td>
|
||
<td>2008</td>
|
||
<td>Pharmacotherapy</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19955245"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19955245</a>
|
||
</td>
|
||
<td class="fir_col">Warfarin sensitivity genotyping: a review of the literature and summary of patient experience.</td>
|
||
<td>Moyer TP et al.</td>
|
||
<td>2009</td>
|
||
<td>Mayo Clinic proceedings</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20150829"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20150829</a>
|
||
</td>
|
||
<td class="fir_col">Cytochrome P450 2C9-CYP2C9.</td>
|
||
<td>Van Booven D et al.</td>
|
||
<td>2010</td>
|
||
<td>Pharmacogenetics and genomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20203262"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20203262</a>
|
||
</td>
|
||
<td class="fir_col">Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups.</td>
|
||
<td>Limdi NA et al.</td>
|
||
<td>2010</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20214591"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20214591</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogenomics in aspirin intolerance.</td>
|
||
<td>Agúndez JA et al.</td>
|
||
<td>2009</td>
|
||
<td>Current drug metabolism</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20709439"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20709439</a>
|
||
</td>
|
||
<td class="fir_col">Warfarin dosing in patients with impaired kidney function.</td>
|
||
<td>Limdi NA et al.</td>
|
||
<td>2010</td>
|
||
<td>American journal of kidney diseases </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21639946"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21639946</a>
|
||
</td>
|
||
<td class="fir_col">Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians.</td>
|
||
<td>Suriapranata IM et al.</td>
|
||
<td>2011</td>
|
||
<td>BMC medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21918509"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21918509</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogenomics: application to the management of cardiovascular disease.</td>
|
||
<td>Johnson JA et al.</td>
|
||
<td>2011</td>
|
||
<td>Clinical pharmacology and therapeutics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22186998"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22186998</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogenetic warfarin dose refinements remain significantly influenced by genetic factors after one week of therapy.</td>
|
||
<td>Horne BD et al.</td>
|
||
<td>2012</td>
|
||
<td>Thrombosis and haemostasis</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22329724"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22329724</a>
|
||
</td>
|
||
<td class="fir_col">Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record.</td>
|
||
<td>Ramirez AH et al.</td>
|
||
<td>2012</td>
|
||
<td>Pharmacogenomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22676711"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22676711</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogenomics of warfarin in populations of African descent.</td>
|
||
<td>Suarez-Kurtz G et al.</td>
|
||
<td>2013</td>
|
||
<td>British journal of clinical pharmacology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24944790"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24944790</a>
|
||
</td>
|
||
<td class="fir_col">Screening for 392 polymorphisms in 141 pharmacogenes.</td>
|
||
<td>Kim JY et al.</td>
|
||
<td>2014</td>
|
||
<td>Biomedical reports</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25714468"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25714468</a>
|
||
</td>
|
||
<td class="fir_col">A systematic approach to the reporting of medically relevant findings from whole genome sequencing.</td>
|
||
<td>McLaughlin HM et al.</td>
|
||
<td>2014</td>
|
||
<td>BMC medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/26785747"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">26785747</a>
|
||
</td>
|
||
<td class="fir_col">Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.</td>
|
||
<td>Iskakova AN et al.</td>
|
||
<td>2016</td>
|
||
<td>BMC genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/27453700"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">27453700</a>
|
||
</td>
|
||
<td class="fir_col">Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models.</td>
|
||
<td>Marek E et al.</td>
|
||
<td>2016</td>
|
||
<td>The journal of pediatric pharmacology and therapeutics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/29218998"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">29218998</a>
|
||
</td>
|
||
<td class="fir_col">VKORC1-1639A allele influences warfarin maintenance dosage among Blacks receiving warfarin anticoagulation: a retrospective cohort study.</td>
|
||
<td>Mili FD et al.</td>
|
||
<td>2018</td>
|
||
<td>Future cardiology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/29681089"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">29681089</a>
|
||
</td>
|
||
<td class="fir_col">Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.</td>
|
||
<td>Padula AM et al.</td>
|
||
<td>2018</td>
|
||
<td>American journal of medical genetics. Part A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/30486437"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">30486437</a>
|
||
</td>
|
||
<td class="fir_col">Impact of CYP2C9 and VKORC1 Polymorphisms on Warfarin Sensitivity and Responsiveness in Jordanian Cardiovascular Patients during the Initiation Therapy.</td>
|
||
<td>Al-Eitan LN et al.</td>
|
||
<td>2018</td>
|
||
<td>Genes</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/30758238"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">30758238</a>
|
||
</td>
|
||
<td class="fir_col">Development and Cross-Validation of High-Resolution Melting Analysis-Based Cardiovascular Pharmacogenetics Genotyping Panel.</td>
|
||
<td>Langaee T et al.</td>
|
||
<td>2019</td>
|
||
<td>Genetic testing and molecular biomarkers</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/31869433"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">31869433</a>
|
||
</td>
|
||
<td class="fir_col">Genetic Factors Influencing Warfarin Dose in Black-African Patients: A Systematic Review and Meta-Analysis.</td>
|
||
<td>Asiimwe IG et al.</td>
|
||
<td>2020</td>
|
||
<td>Clinical pharmacology and therapeutics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/32380173"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">32380173</a>
|
||
</td>
|
||
<td class="fir_col">Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the College of American Pathologists.</td>
|
||
<td>Pratt VM et al.</td>
|
||
<td>2020</td>
|
||
<td>The Journal of molecular diagnostics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/34621706"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">34621706</a>
|
||
</td>
|
||
<td class="fir_col">Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.</td>
|
||
<td>Kim B et al.</td>
|
||
<td>2021</td>
|
||
<td>Translational and clinical pharmacology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/34958284"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">34958284</a>
|
||
</td>
|
||
<td class="fir_col">Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes.</td>
|
||
<td>Muyambo S et al.</td>
|
||
<td>2022</td>
|
||
<td>Omics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/35089958"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">35089958</a>
|
||
</td>
|
||
<td class="fir_col">Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.</td>
|
||
<td>Goljan E et al.</td>
|
||
<td>2022</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/35761855"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">35761855</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.</td>
|
||
<td>Nthontho KC et al.</td>
|
||
<td>2022</td>
|
||
<td>Pharmacogenomics and personalized medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/36164570"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">36164570</a>
|
||
</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/36210801"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">36210801</a>
|
||
</td>
|
||
<td class="fir_col">A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients.</td>
|
||
<td>Asiimwe IG et al.</td>
|
||
<td>2022</td>
|
||
<td>Frontiers in pharmacology</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
||
<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
|
||
href="/pubmed?term=18466099,18752379,19955245,20150829,20203262,20214591,20709439,21639946,21918509,22186998,22329724,22676711,24944790,25714468,26785747,27453700,29218998,29681089,30486437,30758238,31869433,32380173,34621706,34958284,35089958,35761855,36164570,36210801"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="View_All_link">
|
||
<button class="usa-button-outline" type="button">View All in PubMed</button>
|
||
</a>
|
||
|
||
</div>
|
||
|
||
<div id="flanks" class="js-tabcontent">
|
||
<a data-width="640px" href="#flanks_tp"
|
||
ref="section=Flanks&action=Click-on-Tooltip&label=flanks_tp"
|
||
data-section="Flanks" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="flanks_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="flanks_tp">The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.</p>
|
||
|
||
<div id="flanks_container">
|
||
<div id="context_container">
|
||
<span class="sect_heading">
|
||
Genome context:
|
||
</span>
|
||
|
||
<select id="flank_context">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
seq_acc_ver="NC_000010.11" position="94949282:94949283"
|
||
assmacc="GCF_000001405.40" ref_allele="AA"
|
||
variant_type="delins">
|
||
|
||
GRCh38.p14 ( NC_000010.11 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
seq_acc_ver="NC_000010.10" position="96709039:96709040"
|
||
assmacc="GCF_000001405.25" ref_allele="AA"
|
||
variant_type="delins">
|
||
|
||
GRCh37.p13 ( NC_000010.10 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
seq_acc_ver="NG_008385.2" position="16125:16126"
|
||
assmacc="" ref_allele="AA"
|
||
variant_type="delins">
|
||
|
||
NG_008385.2
|
||
|
||
</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
|
||
<span class="sect_heading">
|
||
Select flank length:
|
||
</span>
|
||
<select id="flank_length">
|
||
|
||
|
||
<option value="25"
|
||
selected="selected">
|
||
25 nt</option>
|
||
|
||
<option value="50"
|
||
>
|
||
50 nt</option>
|
||
|
||
<option value="100"
|
||
>
|
||
100 nt</option>
|
||
|
||
<option value="200"
|
||
>
|
||
200 nt</option>
|
||
|
||
|
||
</select>
|
||
<button id="retrieve_flank" class="usa-button-outline" type="button">Retrieve</button>
|
||
<div id="flanking_sequence">
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
<div class="usa-row">
|
||
<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
|
||
<div>
|
||
<span><a href="#top" ref="section=Sequence Viewer&action=Click-on&label=Top_link"
|
||
data-section="Sequence Viewer" data-ga-action="Click-on"
|
||
data-ga-label="Top_link">Top</a></span><span>▲</span>
|
||
<a data-width="640px" href="#sequence_viewer_tp"
|
||
ref="section=Sequence Viewer&action=Click-on-Tooltip&label=sequence_viewer_tp"
|
||
data-section="Sequence Viewer" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="sequence_viewer_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="sequence_viewer_tp">
|
||
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).<br/>
|
||
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.<br/>
|
||
Visit <a class="external-link" href="/tools/sviewer/" target="_blank">Sequence Viewer</a> for help with navigating inside the display and modifying the selection of displayed data tracks.</p>
|
||
|
||
</div>
|
||
</h3>
|
||
<div id="sequence">
|
||
|
||
<div id="seq_div" class="usa-width-one-whole">
|
||
<label for="seq_sel">Choose placement</label>
|
||
<select id="seq_sel">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
data-svparams="id=NC_000010.11&assm_context=GCF_000001405.40&v=94949231.5:94949332.5&mk=94949282:94949283|rs9332131!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="9332131">
|
||
|
||
GRCh38.p14 ( NC_000010.11 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
data-svparams="id=NC_000010.10&assm_context=GCF_000001405.25&v=96708988.5:96709089.5&mk=96709039:96709040|rs9332131!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="9332131">
|
||
|
||
GRCh37.p13 ( NC_000010.10 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
data-svparams="id=NG_008385.2&assm_context=&v=16074.5:16175.5&mk=16125:16126|rs9332131!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="9332131">
|
||
|
||
NG_008385.2
|
||
|
||
</option>
|
||
|
||
</select>
|
||
<div class="align-right">
|
||
<a href="#"
|
||
ref="section=Sequence Viewer&action=Click-on&label=See_rs_in_Variation_Viewer_link"
|
||
data-section="Sequence Viewer" data-ga-action="Click-on"
|
||
data-ga-label="See_rs_in_Variation_Viewer_link">
|
||
<button title="see rs9332131 and neighboring variants in Variation Viewer"
|
||
class="usa-button-outline" id="variation_viewer_btn" type="button">See rs9332131
|
||
in Variation Viewer
|
||
</button>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
<div class="usa-width-one-whole">
|
||
<div id="sv1" class="SeqViewerApp align-right">
|
||
|
||
<a href="?embedded=true&app_context=Variation_Viewer_2-1&id=NC_000010.11"
|
||
aria-hidden="true"></a>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
</main>
|
||
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