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<h1><a data-section="Header" data-ga-action="Click-on"
data-ga-label="dbSNP Short Genetic Variations"
ref="section=Header&action=Click-on&label=dbSNP Short Genetic Variations"
href="/snp/">dbSNP</a>
<span class="uswds-gray tagline">Short Genetic Variations</span>
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<h3 class="usa-alert-heading">Welcome to the Reference SNP (rs) Report</h3>
<p class="usa-alert-text">All alleles are reported in the <a href="https://www.ncbi.nlm.nih.gov/core/assets/snp/docs/RefSNP_orientation_updates.pdf" target="_blank"
data-ga-action="Click for forward orientation" data-ga-category="Info panel"
data-ga-label="Forward orientation">Forward orientation</a>. Click on the
<a href="#variant_details" id="variantlink"
data-ga-action="Click for variant details" data-ga-category="Info panel"
data-ga-label="Forward orientation">Variant Details tab</a> for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the
<a href="#hgvs_tab" id="hgvslink"
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data-ga-label="HGVS tab">HGVS tab</a>.</p>
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<h3>Reference SNP (rs) Report</h3>
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<p id="main_tp">
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.<br/>
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.<br/>
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. <br/>
For more information see <a class="external-link" href="/snp/docs/refsnp_report/helpdoc"> Help documentation</a>.</p>
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<h2 id="refsnp_id">rs75543815</h2>
</div>
</div>
<div class="accession usa-width-one-third">
<p>Current Build <span>157</span></p>
<p>Released <span>
September 3, 2024
</span></p>
</div>
</div>
<div class="summary-box usa-grid-full">
<dl class="usa-width-one-half">
<dt>Organism</dt>
<dd class="species_name">Homo sapiens</dd>
<dt>Position</dt>
<dd>
<span>chr6:18133845 </span><span>(GRCh38.p14) </span><a data-width="640px" href="#pos_tp"
ref="section=Summary&action=Click-on-Tooltip&label=pos_tp"
data-section="Summary" data-ga-action="Click-on-Tooltip"
data-ga-label="pos_tp" class="fa fa-question-circle ncbiPopper" id="position_tooltip"><span class="usa-sr-only">Help</span></a><p id="pos_tp">The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See <a href="/snp/docs/refsnp_report/helpdoc/">here</a> for details.</p>
</dd>
<dt>Alleles</dt>
<dd>
T>A / T>C
</dd>
<dt>Variation Type</dt>
<dd>
SNV
<span class="small-font gray">Single Nucleotide Variation</span>
</dd>
<dt>Frequency</dt>
<dd>
<div>
A=0.000190
(23/121282, ExAC)
</div><div>
A=0.00007
(6/88420, ALFA)
</div><span>
A=0.00234 (181/77444, 38KJPN)
</span><span>(<a id="expandfrequency" data-freq-remn="4"
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">+ 4 more</a>)</span><div class="ui-widget hide_elm" id="remn_summ_freq"><div>
A=0.0033
(24/7234, Korea4K)
</div><div>
A=0.0002
(1/6404, 1000G_30X)
</div><div>
A=0.0002
(1/5008, 1000G)
</div><div>
A=0.0041
(12/2922, KOREAN)
</div></div>
</dd>
</dl>
<dl class="usa-width-one-half">
<dt>Clinical Significance</dt>
<dd>
Not Reported in ClinVar
</dd>
<dt>Gene : Consequence</dt>
<dd>
<span>TPMT : Missense Variant</span>
</dd>
<dt>Publications</dt>
<dd>
<a id="snp_pub_count" href="#publications">3
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>
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<li class="js-tablist__item">
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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>
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<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
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ref="section=Tab&action=Click-on&label=Clinical Significance"
data-ga-action="Click-on-horizontal" data-ga-label="Clinical Significance" id="label_id_second"
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Significance
<span aria-hidden="true"></span></a>
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<span aria-hidden="true"></span></a>
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class="js-tablist__link">Submissions
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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>
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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>
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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>&nbsp;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">88420</td>
<td class="popfreq_ref_allele">T=0.99993</td>
<td class="popfreq_alt_allele">A=0.00007, C=0.00000</td>
<td class="popfreq_alt_allele">0.999864</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.000136</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">75414</td>
<td class="popfreq_ref_allele">T=1.00000</td>
<td class="popfreq_alt_allele">A=0.00000, C=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">T=1.0000</td>
<td class="popfreq_alt_allele">A=0.0000, C=0.0000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492696">African Others</a>
</td>
<td>Sub</td>
<td class="samp_s">174</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">A=0.000, C=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492698">African American</a>
</td>
<td>Sub</td>
<td class="samp_s">4118</td>
<td class="popfreq_ref_allele">T=1.0000</td>
<td class="popfreq_alt_allele">A=0.0000, C=0.0000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492704">Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">3322</td>
<td class="popfreq_ref_allele">T=0.9982</td>
<td class="popfreq_alt_allele">A=0.0018, C=0.0000</td>
<td class="popfreq_alt_allele">0.996388</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.003612</td>
<td class="popfreq_alt_allele">0</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492697">East Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">2666</td>
<td class="popfreq_ref_allele">T=0.9977</td>
<td class="popfreq_alt_allele">A=0.0023, C=0.0000</td>
<td class="popfreq_alt_allele">0.995499</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.004501</td>
<td class="popfreq_alt_allele">0</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">T=1.000</td>
<td class="popfreq_alt_allele">A=0.000, C=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492699">Latin American 1</a>
</td>
<td>Sub</td>
<td class="samp_s">436</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">A=0.000, C=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492700">Latin American 2</a>
</td>
<td>Sub</td>
<td class="samp_s">928</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">A=0.000, C=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492702">South Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">274</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">A=0.000, C=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN11605645">Other</a>
</td>
<td>Sub</td>
<td class="samp_s">3754</td>
<td class="popfreq_ref_allele">T=1.0000</td>
<td class="popfreq_alt_allele">A=0.0000, C=0.0000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
</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/rs75543815/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/PRJEB8661">ExAC</a>
</td>
<td>
<a href="/biosample/SAMN07490465">Global</a>
</td>
<td>Study-wide</td>
<td class="samp_s">121282</td>
<td>T=0.999810</td>
<td>A=0.000190</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
Europe
</td>
<td>Sub</td>
<td class="samp_s">73276</td>
<td>T=1.00000</td>
<td>A=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
Asian
</td>
<td>Sub</td>
<td class="samp_s">25150</td>
<td>T=0.99909</td>
<td>A=0.00091</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
American
</td>
<td>Sub</td>
<td class="samp_s">11570</td>
<td>T=1.00000</td>
<td>A=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
African
</td>
<td>Sub</td>
<td class="samp_s">10378</td>
<td>T=1.00000</td>
<td>A=0.00000</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">908</td>
<td>T=1.000</td>
<td>A=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">88420</td>
<td>T=0.99993</td>
<td>A=0.00007, C=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">75414</td>
<td>T=1.00000</td>
<td>A=0.00000, C=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>T=1.0000</td>
<td>A=0.0000, C=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN11605645">Other</a>
</td>
<td>Sub</td>
<td class="samp_s">3754</td>
<td>T=1.0000</td>
<td>A=0.0000, C=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492704">Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">3322</td>
<td>T=0.9982</td>
<td>A=0.0018, C=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492700">Latin American 2</a>
</td>
<td>Sub</td>
<td class="samp_s">928</td>
<td>T=1.000</td>
<td>A=0.000, C=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>T=1.000</td>
<td>A=0.000, C=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>T=1.000</td>
<td>A=0.000, C=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">77444</td>
<td>T=0.99766</td>
<td>A=0.00234</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA974196">Korean Genome Project 4K</a>
</td>
<td>
KOREAN
</td>
<td>Study-wide</td>
<td class="samp_s">7234</td>
<td>T=0.9967</td>
<td>A=0.0033</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>T=0.9998</td>
<td>A=0.0002</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>T=1.0000</td>
<td>A=0.0000</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>T=1.0000</td>
<td>A=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>T=1.0000</td>
<td>A=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>T=0.9991</td>
<td>A=0.0009</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>T=1.000</td>
<td>A=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>T=0.9998</td>
<td>A=0.0002</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>T=1.0000</td>
<td>A=0.0000</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>T=0.9990</td>
<td>A=0.0010</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>T=1.0000</td>
<td>A=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>T=1.000</td>
<td>A=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>T=1.000</td>
<td>A=0.000</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA589833">KOREAN population from KRGDB</a>
</td>
<td>
KOREAN
</td>
<td>Study-wide</td>
<td class="samp_s">2922</td>
<td>T=0.9959</td>
<td>A=0.0041</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 &gt; 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 6</td>
<td>NC_000006.12:g.18133845T>A</td>
</tr>
<tr>
<td>GRCh38.p14 chr 6</td>
<td>NC_000006.12:g.18133845T>C</td>
</tr>
<tr>
<td>GRCh37.p13 chr 6</td>
<td>NC_000006.11:g.18134076T>A</td>
</tr>
<tr>
<td>GRCh37.p13 chr 6</td>
<td>NC_000006.11:g.18134076T>C</td>
</tr>
<tr>
<td>TPMT RefSeqGene (LRG_874)</td>
<td>NG_012137.3:g.26299A>T</td>
</tr>
<tr>
<td>TPMT RefSeqGene (LRG_874)</td>
<td>NG_012137.3:g.26299A>G</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/7172">TPMT</a>, thiopurine S-methyltransferase
(minus strand)
</div>
<table class="trans_anno_allele_datatable" class="stripe">
<thead>
<tr>
<th>Molecule type</th>
<th>Change</th>
<th>Amino acid[Codon]</th>
<th>SO Term</th>
</tr>
</thead>
<tbody>
<tr class="vard_odd">
<td>TPMT transcript variant 2</td>
<td>
<span>
NM_001346817.1:c.539A>T
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; F [</span><span class="codon-ghost">T</span><span class="codon-hilite">T</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_odd">
<td>thiopurine S-methyltransferase isoform 1</td>
<td>
<span>
NP_001333746.1:p.Tyr180Phe
</span>
</td>
<td>
<span>
Y (Tyr) > F (Phe)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_even">
<td>TPMT transcript variant 2</td>
<td>
<span>
NM_001346817.1:c.539A>G
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; C [</span><span class="codon-ghost">T</span><span class="codon-hilite">G</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_even">
<td>thiopurine S-methyltransferase isoform 1</td>
<td>
<span>
NP_001333746.1:p.Tyr180Cys
</span>
</td>
<td>
<span>
Y (Tyr) > C (Cys)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_odd">
<td>TPMT transcript variant 3</td>
<td>
<span>
NM_001346818.1:c.539A>T
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; F [</span><span class="codon-ghost">T</span><span class="codon-hilite">T</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_odd">
<td>thiopurine S-methyltransferase isoform 2</td>
<td>
<span>
NP_001333747.1:p.Tyr180Phe
</span>
</td>
<td>
<span>
Y (Tyr) > F (Phe)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_even">
<td>TPMT transcript variant 3</td>
<td>
<span>
NM_001346818.1:c.539A>G
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; C [</span><span class="codon-ghost">T</span><span class="codon-hilite">G</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_even">
<td>thiopurine S-methyltransferase isoform 2</td>
<td>
<span>
NP_001333747.1:p.Tyr180Cys
</span>
</td>
<td>
<span>
Y (Tyr) > C (Cys)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_odd">
<td>TPMT transcript variant 1</td>
<td>
<span>
NM_000367.5:c.539A>T
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; F [</span><span class="codon-ghost">T</span><span class="codon-hilite">T</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_odd">
<td>thiopurine S-methyltransferase isoform 1</td>
<td>
<span>
NP_000358.1:p.Tyr180Phe
</span>
</td>
<td>
<span>
Y (Tyr) > F (Phe)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_even">
<td>TPMT transcript variant 1</td>
<td>
<span>
NM_000367.5:c.539A>G
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; C [</span><span class="codon-ghost">T</span><span class="codon-hilite">G</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_even">
<td>thiopurine S-methyltransferase isoform 1</td>
<td>
<span>
NP_000358.1:p.Tyr180Cys
</span>
</td>
<td>
<span>
Y (Tyr) > C (Cys)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_odd">
<td>TPMT transcript variant X1</td>
<td>
<span>
XM_047419289.1:c.539A>T
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; F [</span><span class="codon-ghost">T</span><span class="codon-hilite">T</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_odd">
<td>thiopurine S-methyltransferase isoform X1</td>
<td>
<span>
XP_047275245.1:p.Tyr180Phe
</span>
</td>
<td>
<span>
Y (Tyr) > F (Phe)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_even">
<td>TPMT transcript variant X1</td>
<td>
<span>
XM_047419289.1:c.539A>G
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; C [</span><span class="codon-ghost">T</span><span class="codon-hilite">G</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_even">
<td>thiopurine S-methyltransferase isoform X1</td>
<td>
<span>
XP_047275245.1:p.Tyr180Cys
</span>
</td>
<td>
<span>
Y (Tyr) > C (Cys)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_odd">
<td>TPMT transcript variant X2</td>
<td>
<span>
XM_047419290.1:c.539A>T
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; F [</span><span class="codon-ghost">T</span><span class="codon-hilite">T</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_odd">
<td>thiopurine S-methyltransferase isoform X2</td>
<td>
<span>
XP_047275246.1:p.Tyr180Phe
</span>
</td>
<td>
<span>
Y (Tyr) > F (Phe)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
<tr class="vard_even">
<td>TPMT transcript variant X2</td>
<td>
<span>
XM_047419290.1:c.539A>G
</span>
</td>
<td>
<span><span class="codon-plain">Y [</span><span class="codon-ghost">T</span><span class="codon-hilite">A</span><span class="codon-ghost">T</span><span class="codon-plain">] &gt; C [</span><span class="codon-ghost">T</span><span class="codon-hilite">G</span><span class="codon-ghost">T</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_even">
<td>thiopurine S-methyltransferase isoform X2</td>
<td>
<span>
XP_047275246.1:p.Tyr180Cys
</span>
</td>
<td>
<span>
Y (Tyr) > C (Cys)
</span>
</td>
<td>
Missense Variant
</td>
</tr>
</tbody>
</table>
</div>
</div>
</div>
<div id="clinical_significance" class="js-tabcontent">
<div>
<a data-width="640px" href="#clin_sig_tp"
ref="section=Clinical Significance&action=Click-on-Tooltip&label=clinical_significance_tp"
data-section="Clinical Significance" data-ga-action="Click-on-Tooltip"
data-ga-label="clinical_significance_tp"
class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="clin_sig_tp">
Clinical Significance tab shows a list of <a class="external-link" href="/clinvar/docs/clinsig" rel="nofollow" target="_blank">clinical significance </a>entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. <a href="/clinvar/RCV000001615.2" rel="nofollow" target="_blank">RCV000001615.2</a>) or Allele ID (i.e. <a href="/clinvar/variation/12274/" rel="nofollow" target="_blank">12274</a>) to access full ClinVar report.</p>
<div>Not Reported in ClinVar</div>
</div>
</div>
<div id="hgvs_tab" class="js-tabcontent">
<a data-width="640px" href="#aliases_tp"
ref="section=HGVS&action=Click-on-Tooltip&label=aliases_tp"
data-section="HGVS" data-ga-action="Click-on-Tooltip" data-ga-label="aliases_tp"
class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="aliases_tp">
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. <a href="http://varnomen.hgvs.org/">HGVS name</a> is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".</p>
<div id="hgvs">
<table id="alliases_alleles_datatable" class="stripe">
<thead class="allele_wrap">
<tr>
<th>Placement</th>
<th>
T=
</th>
<th>
A
</th>
<th>
C
</th>
</tr>
</thead>
<tbody class="allele_wrap">
<tr>
<td class="alias_hgvs">
GRCh38.p14 chr 6
</td>
<td class="alias_hgvs">
NC_000006.12:g.18133845=
</td>
<td class="alias_hgvs">
NC_000006.12:g.18133845T>A
</td>
<td class="alias_hgvs">
NC_000006.12:g.18133845T>C
</td>
</tr>
<tr>
<td class="alias_hgvs">
GRCh37.p13 chr 6
</td>
<td class="alias_hgvs">
NC_000006.11:g.18134076=
</td>
<td class="alias_hgvs">
NC_000006.11:g.18134076T>A
</td>
<td class="alias_hgvs">
NC_000006.11:g.18134076T>C
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT RefSeqGene (LRG_874)
</td>
<td class="alias_hgvs">
NG_012137.3:g.26299=
</td>
<td class="alias_hgvs">
NG_012137.3:g.26299A>T
</td>
<td class="alias_hgvs">
NG_012137.3:g.26299A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript variant 1
</td>
<td class="alias_hgvs">
NM_000367.5:c.539=
</td>
<td class="alias_hgvs">
NM_000367.5:c.539A>T
</td>
<td class="alias_hgvs">
NM_000367.5:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript variant 1
</td>
<td class="alias_hgvs">
NM_000367.4:c.539=
</td>
<td class="alias_hgvs">
NM_000367.4:c.539A>T
</td>
<td class="alias_hgvs">
NM_000367.4:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript
</td>
<td class="alias_hgvs">
NM_000367.3:c.539=
</td>
<td class="alias_hgvs">
NM_000367.3:c.539A>T
</td>
<td class="alias_hgvs">
NM_000367.3:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript
</td>
<td class="alias_hgvs">
NM_000367.2:c.539=
</td>
<td class="alias_hgvs">
NM_000367.2:c.539A>T
</td>
<td class="alias_hgvs">
NM_000367.2:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript variant 2
</td>
<td class="alias_hgvs">
NM_001346817.1:c.539=
</td>
<td class="alias_hgvs">
NM_001346817.1:c.539A>T
</td>
<td class="alias_hgvs">
NM_001346817.1:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript variant 3
</td>
<td class="alias_hgvs">
NM_001346818.1:c.539=
</td>
<td class="alias_hgvs">
NM_001346818.1:c.539A>T
</td>
<td class="alias_hgvs">
NM_001346818.1:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript variant X1
</td>
<td class="alias_hgvs">
XM_047419289.1:c.539=
</td>
<td class="alias_hgvs">
XM_047419289.1:c.539A>T
</td>
<td class="alias_hgvs">
XM_047419289.1:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
TPMT transcript variant X2
</td>
<td class="alias_hgvs">
XM_047419290.1:c.539=
</td>
<td class="alias_hgvs">
XM_047419290.1:c.539A>T
</td>
<td class="alias_hgvs">
XM_047419290.1:c.539A>G
</td>
</tr>
<tr>
<td class="alias_hgvs">
thiopurine S-methyltransferase isoform 1
</td>
<td class="alias_hgvs">
NP_000358.1:p.Tyr180=
</td>
<td class="alias_hgvs">
NP_000358.1:p.Tyr180Phe
</td>
<td class="alias_hgvs">
NP_000358.1:p.Tyr180Cys
</td>
</tr>
<tr>
<td class="alias_hgvs">
thiopurine S-methyltransferase isoform 1
</td>
<td class="alias_hgvs">
NP_001333746.1:p.Tyr180=
</td>
<td class="alias_hgvs">
NP_001333746.1:p.Tyr180Phe
</td>
<td class="alias_hgvs">
NP_001333746.1:p.Tyr180Cys
</td>
</tr>
<tr>
<td class="alias_hgvs">
thiopurine S-methyltransferase isoform 2
</td>
<td class="alias_hgvs">
NP_001333747.1:p.Tyr180=
</td>
<td class="alias_hgvs">
NP_001333747.1:p.Tyr180Phe
</td>
<td class="alias_hgvs">
NP_001333747.1:p.Tyr180Cys
</td>
</tr>
<tr>
<td class="alias_hgvs">
thiopurine S-methyltransferase isoform X1
</td>
<td class="alias_hgvs">
XP_047275245.1:p.Tyr180=
</td>
<td class="alias_hgvs">
XP_047275245.1:p.Tyr180Phe
</td>
<td class="alias_hgvs">
XP_047275245.1:p.Tyr180Cys
</td>
</tr>
<tr>
<td class="alias_hgvs">
thiopurine S-methyltransferase isoform X2
</td>
<td class="alias_hgvs">
XP_047275246.1:p.Tyr180=
</td>
<td class="alias_hgvs">
XP_047275246.1:p.Tyr180Phe
</td>
<td class="alias_hgvs">
XP_047275246.1:p.Tyr180Cys
</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">
59 SubSNP,
13 Frequency
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>
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=ss152537272">ss152537272</a>
</td>
<td>Dec 01, 2009
(131)
</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=ss159102797">ss159102797</a>
</td>
<td>Dec 01, 2009
(131)
</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=ss159849719">ss159849719</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=ss169483437">ss169483437</a>
</td>
<td>Jul 04, 2010
(132)
</td>
</tr>
<tr >
<td>5</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=ss240424870">ss240424870</a>
</td>
<td>Jul 15, 2010
(132)
</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=ss479465543">ss479465543</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=ss490920225">ss490920225</a>
</td>
<td>May 04, 2012
(137)
</td>
</tr>
<tr >
<td>8</td>
<td>
EXOME_CHIP
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss491378158">ss491378158</a>
</td>
<td>May 04, 2012
(137)
</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=ss536563707">ss536563707</a>
</td>
<td>Sep 08, 2015
(146)
</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=ss780803128">ss780803128</a>
</td>
<td>Sep 08, 2015
(146)
</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=ss783484625">ss783484625</a>
</td>
<td>Sep 08, 2015
(146)
</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=ss832615593">ss832615593</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>13</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=ss1319172627">ss1319172627</a>
</td>
<td>Aug 21, 2014
(142)
</td>
</tr>
<tr >
<td>14</td>
<td>
BGI
</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=ss1558289984">ss1558289984</a>
</td>
<td>Apr 01, 2015
(144)
</td>
</tr>
<tr >
<td>15</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=ss1688172402">ss1688172402</a>
</td>
<td>Apr 01, 2015
(144)
</td>
</tr>
<tr >
<td>16</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=ss1946168668">ss1946168668</a>
</td>
<td>Feb 12, 2016
(147)
</td>
</tr>
<tr >
<td>17</td>
<td>
SYSTEMSBIOZJU
</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=ss2626270797">ss2626270797</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=ss2634407234">ss2634407234</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=ss2634407235">ss2634407235</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>20</td>
<td>
GRF
</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=ss2707318207">ss2707318207</a>
</td>
<td>Nov 08, 2017
(151)
</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=ss2711061335">ss2711061335</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>22</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=ss2735561520">ss2735561520</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>23</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=ss2747554067">ss2747554067</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>24</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=ss2836353307">ss2836353307</a>
</td>
<td>Nov 08, 2017
(151)
</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=ss3022579699">ss3022579699</a>
</td>
<td>Nov 08, 2017
(151)
</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=ss3625895158">ss3625895158</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=ss3629456182">ss3629456182</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=ss3629456183">ss3629456183</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=ss3635046789">ss3635046789</a>
</td>
<td>Oct 12, 2018
(152)
</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=ss3636761947">ss3636761947</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>31</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3638610056">ss3638610056</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>32</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3640754085">ss3640754085</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>33</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3653088314">ss3653088314</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>34</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3726314866">ss3726314866</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>35</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3744267290">ss3744267290</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>36</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=ss3745346875">ss3745346875</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>37</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=ss3764676120">ss3764676120</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>38</td>
<td>
KRGDB
</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=ss3910778496">ss3910778496</a>
</td>
<td>Apr 26, 2020
(154)
</td>
</tr>
<tr >
<td>39</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=ss4695324995">ss4695324995</a>
</td>
<td>Apr 26, 2021
(155)
</td>
</tr>
<tr >
<td>40</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=ss4695324996">ss4695324996</a>
</td>
<td>Apr 26, 2021
(155)
</td>
</tr>
<tr >
<td>41</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=ss6062350003">ss6062350003</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>42</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=ss6234522936">ss6234522936</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>43</td>
<td>
KOGIC
</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=ss6369522390">ss6369522390</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>44</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=ss6426751474">ss6426751474</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>45</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=ss6426751475">ss6426751475</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>46</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=ss6707992812">ss6707992812</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>47</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=ss6707992813">ss6707992813</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>48</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=ss8176388509">ss8176388509</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>49</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=ss8237020164">ss8237020164</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>50</td>
<td>
TRAN_CS_UWATERLOO
</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=ss8314415166">ss8314415166</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>51</td>
<td>
EVA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8315126421">ss8315126421</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>52</td>
<td>
EVA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8364131012">ss8364131012</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>53</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=ss8553087057">ss8553087057</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>54</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=ss8714119917">ss8714119917</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>55</td>
<td>
YY_MCH
</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=ss8807195570">ss8807195570</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>56</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=ss8848082774">ss8848082774</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>57</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=ss8882860743">ss8882860743</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>58</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=ss8968372719">ss8968372719</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>59</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=ss8981949168">ss8981949168</a>
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>60</td>
<td>
1000Genomes
</td>
<td>
NC_000006.11 - 18134076
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>61</td>
<td>
1000Genomes_30X
</td>
<td>
NC_000006.12 - 18133845
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>62</td>
<td>
ExAC
</td>
<td>
NC_000006.11 - 18134076
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr class="disabled" >
<td>63</td>
<td>
<a href="#submission_tt_63"
data-ga-label="submission_tt_63" class="disabled">
gnomAD v4 - Exomes
</a>
<p id="submission_tt_63" class="break_values">
Submission ignored due to conflicting rows:<br>Row 22062421 (NC_000006.12:18133844:T:A 133/1401256)<br>Row 22062422 (NC_000006.12:18133844:T:C 1/1401256)
</p>
</td>
<td>
-
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr class="disabled" >
<td>64</td>
<td>
<a href="#submission_tt_64"
data-ga-label="submission_tt_64" class="disabled">
gnomAD v4 - Exomes
</a>
<p id="submission_tt_64" class="break_values">
Submission ignored due to conflicting rows:<br>Row 22062421 (NC_000006.12:18133844:T:A 133/1401256)<br>Row 22062422 (NC_000006.12:18133844:T:C 1/1401256)
</p>
</td>
<td>
-
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr class="disabled" >
<td>65</td>
<td>
<a href="#submission_tt_65"
data-ga-label="submission_tt_65" class="disabled">
gnomAD v4 - Genomes
</a>
<p id="submission_tt_65" class="break_values">
Submission ignored due to conflicting rows:<br>Row 234762375 (NC_000006.12:18133844:T:A 14/147226)<br>Row 234762376 (NC_000006.12:18133844:T:C 1/147208)
</p>
</td>
<td>
-
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr class="disabled" >
<td>66</td>
<td>
<a href="#submission_tt_66"
data-ga-label="submission_tt_66" class="disabled">
gnomAD v4 - Genomes
</a>
<p id="submission_tt_66" class="break_values">
Submission ignored due to conflicting rows:<br>Row 234762375 (NC_000006.12:18133844:T:A 14/147226)<br>Row 234762376 (NC_000006.12:18133844:T:C 1/147208)
</p>
</td>
<td>
-
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>67</td>
<td>
KOREAN population from KRGDB
</td>
<td>
NC_000006.11 - 18134076
</td>
<td>Apr 26, 2020
(154)
</td>
</tr>
<tr >
<td>68</td>
<td>
Korean Genome Project 4K
</td>
<td>
NC_000006.12 - 18133845
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr >
<td>69</td>
<td>
38KJPN
</td>
<td>
NC_000006.12 - 18133845
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
<tr class="disabled" >
<td>70</td>
<td>
<a href="#submission_tt_70"
data-ga-label="submission_tt_70" class="disabled">
TopMed
</a>
<p id="submission_tt_70" class="break_values">
Submission ignored due to conflicting rows:<br>Row 532702553 (NC_000006.12:18133844:T:A 39/264690)<br>Row 532702554 (NC_000006.12:18133844:T:C 2/264690)
</p>
</td>
<td>
-
</td>
<td>Apr 26, 2021
(155)
</td>
</tr>
<tr class="disabled" >
<td>71</td>
<td>
<a href="#submission_tt_71"
data-ga-label="submission_tt_71" class="disabled">
TopMed
</a>
<p id="submission_tt_71" class="break_values">
Submission ignored due to conflicting rows:<br>Row 532702553 (NC_000006.12:18133844:T:A 39/264690)<br>Row 532702554 (NC_000006.12:18133844:T:C 2/264690)
</p>
</td>
<td>
-
</td>
<td>Apr 26, 2021
(155)
</td>
</tr>
<tr >
<td>72</td>
<td>
ALFA
</td>
<td>
NC_000006.12 - 18133845
</td>
<td>Nov 02, 2024
(157)
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div id="history" class="js-tabcontent">
<a data-width="640px" href="#history_tp"
ref="section=History&action=Click-on-Tooltip&label=history_tp"
data-section="History" data-ga-action="Click-on-Tooltip" data-ga-label="history_tp"
class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="history_tp">
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).</p>
<div id="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>
ss1558289984
</td>
<td>
NC_000006.10:18242054:T:A
</td>
<td>
NC_000006.12:18133844:T:A
</td>
<td>
(self)
</td>
</tr>
<tr>
<td>
30923710,
8192400,
17955890,
ss240424870,
ss479465543,
ss490920225,
ss491378158,
ss536563707,
ss780803128,
ss783484625,
ss832615593,
ss1319172627,
ss1688172402,
ss1946168668,
ss2626270797,
ss2634407234,
ss2634407235,
ss2707318207,
ss2711061335,
ss2735561520,
ss2747554067,
ss2836353307,
ss3022579699,
ss3625895158,
ss3629456182,
ss3629456183,
ss3635046789,
ss3636761947,
ss3638610056,
ss3640754085,
ss3653088314,
ss3744267290,
ss3745346875,
ss3764676120,
ss3910778496,
ss6234522936,
ss8176388509,
ss8315126421,
ss8364131012,
ss8848082774,
ss8968372719,
ss8981949168
</td>
<td>
NC_000006.11:18134075:T:A
</td>
<td>
NC_000006.12:18133844:T:A
</td>
<td>
(self)
</td>
</tr>
<tr>
<td>
40612992,
19374288,
79725823,
9359974126,
ss3726314866,
ss4695324995,
ss6062350003,
ss6369522390,
ss6426751474,
ss6707992812,
ss8237020164,
ss8314415166,
ss8553087057,
ss8714119917,
ss8807195570,
ss8882860743
</td>
<td>
NC_000006.12:18133844:T:A
</td>
<td>
NC_000006.12:18133844:T:A
</td>
<td>
(self)
</td>
</tr>
<tr>
<td>
ss152537272,
ss159102797,
ss159849719,
ss169483437
</td>
<td>
NT_007592.15:18074075:T:A
</td>
<td>
NC_000006.12:18133844:T:A
</td>
<td>
(self)
</td>
</tr>
<tr>
<td>
9359974126,
ss4695324996,
ss6426751475,
ss6707992813
</td>
<td>
NC_000006.12:18133844:T:C
</td>
<td>
NC_000006.12:18133844:T:C
</td>
<td>
(self)
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div id="publications" class="js-tabcontent">
<a data-width="640px" href="#publications_tp"
ref="section=Publications&action=Click-on-Tooltip&label=publications_tp"
data-section="Publications" data-ga-action="Click-on-Tooltip"
data-ga-label="publications_tp" class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="publications_tp">
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.</p>
<div class="sect_heading">
3
citations for rs75543815
</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/24860591"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">24860591</a>
</td>
<td class="fir_col">Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.</td>
<td>Almoguera B et al.</td>
<td>2014</td>
<td>Frontiers in genetics</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/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>
</tbody>
</table>
</div>
<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
href="/pubmed?term=24860591,24944790,35089958"
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_000006.12" position="18133845"
assmacc="GCF_000001405.40" ref_allele="T"
variant_type="snv">
GRCh38.p14 ( NC_000006.12 )
</option>
<option value="option2"
seq_acc_ver="NC_000006.11" position="18134076"
assmacc="GCF_000001405.25" ref_allele="T"
variant_type="snv">
GRCh37.p13 ( NC_000006.11 )
</option>
<option value="option3"
seq_acc_ver="NG_012137.3" position="26299"
assmacc="" ref_allele="T"
variant_type="snv">
NG_012137.3
</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>&#x25B2;</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_000006.12&assm_context=GCF_000001405.40&v=18133795.0:18133895.0&mk=18133845|rs75543815!&theme=SNP_ref"
data-assmacc="GCF_000001405.40" data-rsid="75543815">
GRCh38.p14 ( NC_000006.12 )
</option>
<option value="option2"
data-svparams="id=NC_000006.11&assm_context=GCF_000001405.25&v=18134026.0:18134126.0&mk=18134076|rs75543815!&theme=SNP_ref"
data-assmacc="GCF_000001405.25" data-rsid="75543815">
GRCh37.p13 ( NC_000006.11 )
</option>
<option value="option3"
data-svparams="id=NG_012137.3&assm_context=&v=26249.0:26349.0&mk=26299|rs75543815!&theme=SNP_ref"
data-assmacc="" data-rsid="75543815">
NG_012137.3
</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 rs75543815 and neighboring variants in Variation Viewer"
class="usa-button-outline" id="variation_viewer_btn" type="button">See rs75543815
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_000006.12"
aria-hidden="true"></a>
</div>
</div>
</div>
</div>
</div>
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