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<div class="usa-width-one-half">
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<h1><a data-section="Header" data-ga-action="Click-on"
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data-ga-label="dbSNP Short Genetic Variations"
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ref="section=Header&action=Click-on&label=dbSNP Short Genetic Variations"
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href="/snp/">dbSNP</a>
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<span class="uswds-gray tagline">Short Genetic Variations</span>
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</h1>
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<div class="usa-alert-body">
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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-action="Click for forward orientation" data-ga-category="Info panel"
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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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data-ga-label="HGVS tab">HGVS tab</a>.</p>
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<h3>Reference SNP (rs) Report</h3>
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</div>
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<div class="usa-width-one-half">
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<ul class="utilities usa-unstyled-list align-right">
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<li title="Download in API JSON format"><a href="https://api.ncbi.nlm.nih.gov/variation/v0/refsnp/334"
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data-section="Main" data-ga-action="Click-on" data-ga-label="main_download_btn"
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class="fa fa-question-circle ncbiPopper" id="mainhelp_tooltip"
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ref="section=Main&action=Click-on-Tooltip&label=main_tp"><span class="usa-sr-only">Help</span></a>
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<p id="main_tp">
|
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This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.<br/>
|
||
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.<br/>
|
||
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. <br/>
|
||
For more information see <a class="external-link" href="/snp/docs/refsnp_report/helpdoc"> Help documentation</a>.</p>
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<div class="usa-grid-full clearfix">
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<div class="usa-width-two-thirds">
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<div class="blue-box">
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<h2 id="refsnp_id">rs334</h2>
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</div>
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</div>
|
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<div class="accession usa-width-one-third">
|
||
<p>Current Build <span>156</span></p>
|
||
<p>Released <span>
|
||
|
||
September 21, 2022
|
||
|
||
</span></p>
|
||
</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>chr11:5227002 </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"
|
||
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 / T>G
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
SNV
|
||
|
||
|
||
|
||
<span class="small-font gray">Single Nucleotide Variation</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div>
|
||
A=0.003480
|
||
(874/251180, GnomAD_exome)
|
||
</div><div>
|
||
A=0.012978
|
||
(1820/140232, GnomAD)
|
||
</div><span>
|
||
A=0.004384 (532/121340, ExAC)
|
||
</span><span>(<a id="expandfrequency" data-freq-remn="10"
|
||
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">+ 10 more</a>)</span><div class="ui-widget hide_elm" id="remn_summ_freq"><div>
|
||
A=0.00078
|
||
(35/44606, ALFA)
|
||
</div><div>
|
||
A=0.0287
|
||
(184/6404, 1000G_30x)
|
||
</div><div>
|
||
A=0.0274
|
||
(137/5008, 1000G)
|
||
</div><div>
|
||
G=0.0017
|
||
(5/2922, KOREAN)
|
||
</div><div>
|
||
G=0.0005
|
||
(1/1832, Korea1K)
|
||
</div><div>
|
||
A=0.040
|
||
(13/322, HapMap)
|
||
</div><div>
|
||
A=0.019
|
||
(4/216, Qatari)
|
||
</div><div>
|
||
A=0.00
|
||
(0/92, Ancient Sardinia)
|
||
</div><div>
|
||
T=0.5
|
||
(5/10, SGDP_PRJ)
|
||
</div><div>
|
||
A=0.5
|
||
(5/10, SGDP_PRJ)
|
||
</div></div>
|
||
|
||
</dd>
|
||
|
||
</dl>
|
||
<dl class="usa-width-one-half">
|
||
|
||
<dt>Clinical Significance</dt>
|
||
<dd>
|
||
|
||
Reported in <a target="_blank" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Reported in ClinVar"
|
||
ref="section=Summary&action=Click-on&label=Reported in ClinVar"
|
||
href="/clinvar?term=((30372[AlleleID])OR(30214[AlleleID]))">ClinVar</a>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Gene : Consequence</dt>
|
||
<dd>
|
||
|
||
<span>HBB : Missense Variant</span>
|
||
|
||
</dd>
|
||
|
||
<dt>Publications</dt>
|
||
<dd>
|
||
|
||
<a id="snp_pub_count" href="#publications">112
|
||
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">44606</td>
|
||
<td class="popfreq_ref_allele">T=0.99922</td>
|
||
<td class="popfreq_alt_allele">A=0.00078</td>
|
||
<td class="popfreq_alt_allele">0.998431</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.001569</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">32830</td>
|
||
<td class="popfreq_ref_allele">T=0.99994</td>
|
||
<td class="popfreq_alt_allele">A=0.00006</td>
|
||
<td class="popfreq_alt_allele">0.999878</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.000122</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492703">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3340</td>
|
||
<td class="popfreq_ref_allele">T=0.9970</td>
|
||
<td class="popfreq_alt_allele">A=0.0030</td>
|
||
<td class="popfreq_alt_allele">0.994012</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.005988</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">108</td>
|
||
<td class="popfreq_ref_allele">T=0.991</td>
|
||
<td class="popfreq_alt_allele">A=0.009</td>
|
||
<td class="popfreq_alt_allele">0.981481</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.018519</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">3232</td>
|
||
<td class="popfreq_ref_allele">T=0.9972</td>
|
||
<td class="popfreq_alt_allele">A=0.0028</td>
|
||
<td class="popfreq_alt_allele">0.994431</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.005569</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">168</td>
|
||
<td class="popfreq_ref_allele">T=1.000</td>
|
||
<td class="popfreq_alt_allele">A=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/SAMN10492697">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">112</td>
|
||
<td class="popfreq_ref_allele">T=1.000</td>
|
||
<td class="popfreq_alt_allele">A=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/SAMN10492701">Other Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">56</td>
|
||
<td class="popfreq_ref_allele">T=1.00</td>
|
||
<td class="popfreq_alt_allele">A=0.00</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">498</td>
|
||
<td class="popfreq_ref_allele">T=0.978</td>
|
||
<td class="popfreq_alt_allele">A=0.022</td>
|
||
<td class="popfreq_alt_allele">0.955823</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.044177</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">626</td>
|
||
<td class="popfreq_ref_allele">T=1.000</td>
|
||
<td class="popfreq_alt_allele">A=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">98</td>
|
||
<td class="popfreq_ref_allele">T=1.00</td>
|
||
<td class="popfreq_alt_allele">A=0.00</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">7046</td>
|
||
<td class="popfreq_ref_allele">T=0.9983</td>
|
||
<td class="popfreq_alt_allele">A=0.0017</td>
|
||
<td class="popfreq_alt_allele">0.996594</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.003406</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/rs334/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 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488253">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">251180</td>
|
||
<td>T=0.996520</td>
|
||
<td>A=0.003480</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10181265">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">135172</td>
|
||
<td>T=0.999956</td>
|
||
<td>A=0.000044</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">48978</td>
|
||
<td>T=0.99961</td>
|
||
<td>A=0.00039</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488255">American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">34570</td>
|
||
<td>T=0.99783</td>
|
||
<td>A=0.00217</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488254">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">16256</td>
|
||
<td>T=0.95300</td>
|
||
<td>A=0.04700</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488252">Ashkenazi Jewish</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">10070</td>
|
||
<td>T=1.00000</td>
|
||
<td>A=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488248">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">6134</td>
|
||
<td>T=0.9984</td>
|
||
<td>A=0.0016</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488253">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">140232</td>
|
||
<td>T=0.987022</td>
|
||
<td>A=0.012978</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10181265">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">75944</td>
|
||
<td>T=0.99986</td>
|
||
<td>A=0.00014</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488254">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">42028</td>
|
||
<td>T=0.95915</td>
|
||
<td>A=0.04085</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488255">American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">13660</td>
|
||
<td>T=0.99510</td>
|
||
<td>A=0.00490</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488252">Ashkenazi Jewish</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3322</td>
|
||
<td>T=1.0000</td>
|
||
<td>A=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488251">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3130</td>
|
||
<td>T=1.0000</td>
|
||
<td>A=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488248">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2148</td>
|
||
<td>T=0.9884</td>
|
||
<td>A=0.0116</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">121340</td>
|
||
<td>T=0.995616</td>
|
||
<td>A=0.004384</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Europe
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">73348</td>
|
||
<td>T=0.99992</td>
|
||
<td>A=0.00008</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">25132</td>
|
||
<td>T=0.99964</td>
|
||
<td>A=0.00036</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">11548</td>
|
||
<td>T=0.99896</td>
|
||
<td>A=0.00104</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">10404</td>
|
||
<td>T=0.95146</td>
|
||
<td>A=0.04854</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">44606</td>
|
||
<td>T=0.99922</td>
|
||
<td>A=0.00078</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">32830</td>
|
||
<td>T=0.99994</td>
|
||
<td>A=0.00006</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">7046</td>
|
||
<td>T=0.9983</td>
|
||
<td>A=0.0017</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">3340</td>
|
||
<td>T=0.9970</td>
|
||
<td>A=0.0030</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">626</td>
|
||
<td>T=1.000</td>
|
||
<td>A=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">498</td>
|
||
<td>T=0.978</td>
|
||
<td>A=0.022</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">168</td>
|
||
<td>T=1.000</td>
|
||
<td>A=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">98</td>
|
||
<td>T=1.00</td>
|
||
<td>A=0.00</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=0.9713</td>
|
||
<td>A=0.0287</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=0.8998</td>
|
||
<td>A=0.1002</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=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/SAMN07488242">American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">980</td>
|
||
<td>T=0.995</td>
|
||
<td>A=0.005</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=0.9726</td>
|
||
<td>A=0.0274</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=0.9002</td>
|
||
<td>A=0.0998</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=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/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=0.993</td>
|
||
<td>A=0.007</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=0.9983</td>
|
||
<td>G=0.0017</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA609628">Korean Genome Project</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
KOREAN
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">1832</td>
|
||
<td>T=0.9995</td>
|
||
<td>G=0.0005</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10820145">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">322</td>
|
||
<td>T=0.960</td>
|
||
<td>A=0.040</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10821182">American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">118</td>
|
||
<td>T=1.000</td>
|
||
<td>A=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10821181">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">114</td>
|
||
<td>T=0.886</td>
|
||
<td>A=0.114</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA60817">HapMap</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10821184">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">90</td>
|
||
<td>T=1.00</td>
|
||
<td>A=0.00</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA288297">Qatari</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13019808">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">216</td>
|
||
<td>T=0.981</td>
|
||
<td>A=0.019</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB36033">Ancient Sardinia genome-wide 1240k capture data generation and analysis</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN15458807">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">92</td>
|
||
<td>T=1.00</td>
|
||
<td>A=0.00</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA586841">SGDP_PRJ</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">10</td>
|
||
<td>T=0.5</td>
|
||
<td>A=0.5</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 11</td>
|
||
<td>NC_000011.10:g.5227002T>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 11</td>
|
||
<td>NC_000011.10:g.5227002T>C</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 11</td>
|
||
<td>NC_000011.10:g.5227002T>G</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 11</td>
|
||
<td>NC_000011.9:g.5248232T>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 11</td>
|
||
<td>NC_000011.9:g.5248232T>C</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 11</td>
|
||
<td>NC_000011.9:g.5248232T>G</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>HBB region RefSeqGene</td>
|
||
<td>NG_000007.3:g.70614A>T</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>HBB region RefSeqGene</td>
|
||
<td>NG_000007.3:g.70614A>G</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>HBB region RefSeqGene</td>
|
||
<td>NG_000007.3:g.70614A>C</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>HBB RefSeqGene (LRG_1232)</td>
|
||
<td>NG_059281.1:g.5070A>T</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>HBB RefSeqGene (LRG_1232)</td>
|
||
<td>NG_059281.1:g.5070A>G</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>HBB RefSeqGene (LRG_1232)</td>
|
||
<td>NG_059281.1:g.5070A>C</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>LOC107133510 genomic region</td>
|
||
<td>NG_046672.1:g.4937T>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>LOC107133510 genomic region</td>
|
||
<td>NG_046672.1:g.4937T>C</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>LOC107133510 genomic region</td>
|
||
<td>NG_046672.1:g.4937T>G</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>LOC106099062 genomic region</td>
|
||
<td>NG_042296.1:g.533T>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>LOC106099062 genomic region</td>
|
||
<td>NG_042296.1:g.533T>C</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>LOC106099062 genomic region</td>
|
||
<td>NG_042296.1:g.533T>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/3043">HBB</a>, hemoglobin subunit beta
|
||
(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>HBB transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000518.5:c.20A>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">E [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">G</span><span class="codon-plain">] > V [</span><span class="codon-ghost">G</span><span class="codon-hilite">T</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>hemoglobin subunit beta</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000509.1:p.Glu7Val
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
E (Glu) > V (Val)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>HBB transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000518.5:c.20A>G
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">E [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">G</span><span class="codon-plain">] > G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>hemoglobin subunit beta</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000509.1:p.Glu7Gly
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
E (Glu) > G (Gly)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>HBB transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000518.5:c.20A>C
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">E [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">G</span><span class="codon-plain">] > A [</span><span class="codon-ghost">G</span><span class="codon-hilite">C</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>hemoglobin subunit beta</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000509.1:p.Glu7Ala
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
E (Glu) > A (Ala)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div id="clinical_significance" class="js-tabcontent">
|
||
<div>
|
||
<a data-width="640px" href="#clin_sig_tp"
|
||
ref="section=Clinical Significance&action=Click-on-Tooltip&label=clinical_significance_tp"
|
||
data-section="Clinical Significance" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="clinical_significance_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="clin_sig_tp">
|
||
Clinical Significance tab shows a list of <a class="external-link" href="/clinvar/docs/clinsig" rel="nofollow" target="_blank">clinical significance </a>entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. <a href="/clinvar/RCV000001615.2" rel="nofollow" target="_blank">RCV000001615.2</a>) or Allele ID (i.e. <a href="/clinvar/variation/12274/" rel="nofollow" target="_blank">12274</a>) to access full ClinVar report.</p>
|
||
|
||
|
||
|
||
|
||
<div class="sect_heading">Allele: A (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(30372[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
30372
|
||
</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/RCV000016286.7">RCV000016286.7</a>
|
||
</td>
|
||
<td>HEMOGLOBIN ZIGUINCHOR</td>
|
||
<td>Other</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016573.14">RCV000016573.14</a>
|
||
</td>
|
||
<td>HEMOGLOBIN S</td>
|
||
<td>Other</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016574.54">RCV000016574.54</a>
|
||
</td>
|
||
<td>Hb SS disease</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016575.37">RCV000016575.37</a>
|
||
</td>
|
||
<td>Malaria, resistance to</td>
|
||
<td>Protective</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/RCV000016576.8">RCV000016576.8</a>
|
||
</td>
|
||
<td>HEMOGLOBIN S (ANTILLES)</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016577.8">RCV000016577.8</a>
|
||
</td>
|
||
<td>Sickle cell-Hemoglobin O Arab disease</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016579.8">RCV000016579.8</a>
|
||
</td>
|
||
<td>HEMOGLOBIN S (PROVIDENCE)</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016580.9">RCV000016580.9</a>
|
||
</td>
|
||
<td>HEMOGLOBIN S (TRAVIS)</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016877.8">RCV000016877.8</a>
|
||
</td>
|
||
<td>HEMOGLOBIN S (CAMEROON)</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000016879.5">RCV000016879.5</a>
|
||
</td>
|
||
<td>HEMOGLOBIN JAMAICA PLAIN</td>
|
||
<td>Other</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000030905.6">RCV000030905.6</a>
|
||
</td>
|
||
<td>HEMOGLOBIN ZIGUINCHOR</td>
|
||
<td>Other</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000224000.29">RCV000224000.29</a>
|
||
</td>
|
||
<td>not provided</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000477892.3">RCV000477892.3</a>
|
||
</td>
|
||
<td>Dominant beta-thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Malaria, susceptibility to,beta Thalassemia</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000576548.11">RCV000576548.11</a>
|
||
</td>
|
||
<td>beta Thalassemia</td>
|
||
<td>Conflicting-Interpretations-Of-Pathogenicity</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000623118.2">RCV000623118.2</a>
|
||
</td>
|
||
<td>Inborn genetic diseases</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000723337.4">RCV000723337.4</a>
|
||
</td>
|
||
<td>Fetal hemoglobin quantitative trait locus 1</td>
|
||
<td>Likely-Benign</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001104054.3">RCV001104054.3</a>
|
||
</td>
|
||
<td>Hemoglobin E</td>
|
||
<td>Likely-Benign</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001192494.2">RCV001192494.2</a>
|
||
</td>
|
||
<td>Sickle cell disease and related diseases</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001255121.2">RCV001255121.2</a>
|
||
</td>
|
||
<td>Anemia</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001535873.2">RCV001535873.2</a>
|
||
</td>
|
||
<td>Dominant beta-thalassemia,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,alpha Thalassemia,beta Thalassemia</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001777141.2">RCV001777141.2</a>
|
||
</td>
|
||
<td>not specified</td>
|
||
<td>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/RCV001824571.5">RCV001824571.5</a>
|
||
</td>
|
||
<td>HBB-Related Disorders</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV002251908.2">RCV002251908.2</a>
|
||
</td>
|
||
<td>See cases</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
<div class="sect_heading">Allele: G (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(30214[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
30214
|
||
</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/RCV000016352.5">RCV000016352.5</a>
|
||
</td>
|
||
<td>HEMOGLOBIN G (MAKASSAR)</td>
|
||
<td>Other</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="hgvs_tab" class="js-tabcontent">
|
||
<a data-width="640px" href="#aliases_tp"
|
||
ref="section=HGVS&action=Click-on-Tooltip&label=aliases_tp"
|
||
data-section="HGVS" data-ga-action="Click-on-Tooltip" data-ga-label="aliases_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="aliases_tp">
|
||
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. <a href="http://varnomen.hgvs.org/">HGVS name</a> is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".</p>
|
||
|
||
<div id="hgvs">
|
||
<table id="alliases_alleles_datatable" class="stripe">
|
||
<thead class="allele_wrap">
|
||
<tr>
|
||
<th>Placement</th>
|
||
|
||
<th>
|
||
T=
|
||
</th>
|
||
|
||
<th>
|
||
A
|
||
</th>
|
||
|
||
<th>
|
||
C
|
||
</th>
|
||
|
||
<th>
|
||
G
|
||
</th>
|
||
|
||
</tr>
|
||
</thead>
|
||
<tbody class="allele_wrap">
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh38.p14 chr 11
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.10:g.5227002=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.10:g.5227002T>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.10:g.5227002T>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.10:g.5227002T>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr 11
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.9:g.5248232=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.9:g.5248232T>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.9:g.5248232T>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000011.9:g.5248232T>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
HBB region RefSeqGene
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_000007.3:g.70614=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_000007.3:g.70614A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_000007.3:g.70614A>G
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_000007.3:g.70614A>C
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
HBB RefSeqGene (LRG_1232)
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_059281.1:g.5070=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_059281.1:g.5070A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_059281.1:g.5070A>G
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_059281.1:g.5070A>C
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
HBB transcript
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.5:c.20=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.5:c.20A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.5:c.20A>G
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.5:c.20A>C
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
HBB transcript
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.4:c.20=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.4:c.20A>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.4:c.20A>G
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000518.4:c.20A>C
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
LOC107133510 genomic region
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_046672.1:g.4937=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_046672.1:g.4937T>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_046672.1:g.4937T>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_046672.1:g.4937T>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
LOC106099062 genomic region
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_042296.1:g.533=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_042296.1:g.533T>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_042296.1:g.533T>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_042296.1:g.533T>G
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
hemoglobin subunit beta
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000509.1:p.Glu7=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000509.1:p.Glu7Val
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000509.1:p.Glu7Gly
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000509.1:p.Glu7Ala
|
||
</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">
|
||
|
||
57 SubSNP,
|
||
|
||
12 Frequency,
|
||
|
||
24 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>
|
||
|
||
NCBI
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss335">ss335</a>
|
||
|
||
</td>
|
||
<td>Sep 19, 2000
|
||
(36)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</td>
|
||
<td>
|
||
|
||
SEQUENOM
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss24811263">ss24811263</a>
|
||
|
||
</td>
|
||
<td>Sep 20, 2004
|
||
(123)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>3</td>
|
||
<td>
|
||
|
||
APPLERA_GI
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss48419811">ss48419811</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>4</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850538">ss49850538</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850540">ss49850540</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>6</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850542">ss49850542</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850544">ss49850544</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850546">ss49850546</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850548">ss49850548</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>10</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850550">ss49850550</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>11</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850552">ss49850552</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>12</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850554">ss49850554</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>13</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss49850555">ss49850555</a>
|
||
|
||
</td>
|
||
<td>Mar 13, 2006
|
||
(126)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>14</td>
|
||
<td>
|
||
|
||
MILLER_NIDDK
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss65658196">ss65658196</a>
|
||
|
||
</td>
|
||
<td>Dec 01, 2006
|
||
(127)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>15</td>
|
||
<td>
|
||
|
||
PERLEGEN
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss69307501">ss69307501</a>
|
||
|
||
</td>
|
||
<td>May 17, 2007
|
||
(127)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>16</td>
|
||
<td>
|
||
|
||
HBVAR
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss79088884">ss79088884</a>
|
||
|
||
</td>
|
||
<td>Oct 02, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>17</td>
|
||
<td>
|
||
|
||
HBVAR
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss79088886">ss79088886</a>
|
||
|
||
</td>
|
||
<td>Oct 02, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>18</td>
|
||
<td>
|
||
|
||
HBVAR
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss79089796">ss79089796</a>
|
||
|
||
</td>
|
||
<td>Oct 02, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>19</td>
|
||
<td>
|
||
|
||
SEATTLESEQ
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss159722269">ss159722269</a>
|
||
|
||
</td>
|
||
<td>Dec 01, 2009
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>20</td>
|
||
<td>
|
||
|
||
COMPLETE_GENOMICS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss168938347">ss168938347</a>
|
||
|
||
</td>
|
||
<td>Jul 04, 2010
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>21</td>
|
||
<td>
|
||
|
||
RSG_UW
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss212960460">ss212960460</a>
|
||
|
||
</td>
|
||
<td>Jul 04, 2010
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>22</td>
|
||
<td>
|
||
|
||
1000GENOMES
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss225064977">ss225064977</a>
|
||
|
||
</td>
|
||
<td>Jul 14, 2010
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>23</td>
|
||
<td>
|
||
|
||
OMIM-CURATED-RECORDS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss263198838">ss263198838</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2010
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>24</td>
|
||
<td>
|
||
|
||
OMIM-CURATED-RECORDS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss263198960">ss263198960</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2010
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>25</td>
|
||
<td>
|
||
|
||
NHLBI-ESP
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss342316075">ss342316075</a>
|
||
|
||
</td>
|
||
<td>May 09, 2011
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>26</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=ss491010799">ss491010799</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>27</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=ss491445404">ss491445404</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>28</td>
|
||
<td>
|
||
|
||
CLINSEQ_SNP
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss491638176">ss491638176</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(136)
|
||
</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=ss533576724">ss533576724</a>
|
||
|
||
</td>
|
||
<td>Sep 08, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>30</td>
|
||
<td>
|
||
|
||
JMKIDD_LAB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1067519460">ss1067519460</a>
|
||
|
||
</td>
|
||
<td>Aug 21, 2014
|
||
(142)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>31</td>
|
||
<td>
|
||
|
||
JMKIDD_LAB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1077464818">ss1077464818</a>
|
||
|
||
</td>
|
||
<td>Aug 21, 2014
|
||
(142)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>32</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=ss1339939582">ss1339939582</a>
|
||
|
||
</td>
|
||
<td>Aug 21, 2014
|
||
(142)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>33</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=ss1690220976">ss1690220976</a>
|
||
|
||
</td>
|
||
<td>Apr 01, 2015
|
||
(144)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>34</td>
|
||
<td>
|
||
|
||
ITMI
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1776567973">ss1776567973</a>
|
||
|
||
</td>
|
||
<td>Sep 08, 2015
|
||
(146)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>35</td>
|
||
<td>
|
||
|
||
WEILL_CORNELL_DGM
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1931523242">ss1931523242</a>
|
||
|
||
</td>
|
||
<td>Feb 12, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>36</td>
|
||
<td>
|
||
|
||
HUMAN_LONGEVITY
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2179830167">ss2179830167</a>
|
||
|
||
</td>
|
||
<td>Dec 20, 2016
|
||
(150)
|
||
</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=ss2738739466">ss2738739466</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>38</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=ss2748543909">ss2748543909</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>39</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=ss2895840074">ss2895840074</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>40</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=ss2984931974">ss2984931974</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>41</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3626587887">ss3626587887</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>42</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3653703559">ss3653703559</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>43</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=ss3814235341">ss3814235341</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>44</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=ss3824585932">ss3824585932</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>45</td>
|
||
<td>
|
||
|
||
SGDP_PRJ
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3875552707">ss3875552707</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>46</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=ss3923775569">ss3923775569</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>47</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=ss3969119145">ss3969119145</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>48</td>
|
||
<td>
|
||
|
||
FSA-LAB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3983994691">ss3983994691</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</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=ss3985514791">ss3985514791</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>50</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=ss3986512434">ss3986512434</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>51</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=ss5286250469">ss5286250469</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</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=ss5397462506">ss5397462506</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>53</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=ss5481570498">ss5481570498</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>54</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=ss5581295063">ss5581295063</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>55</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=ss5650547108">ss5650547108</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</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=ss5918652479">ss5918652479</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</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=ss5941850074">ss5941850074</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>58</td>
|
||
<td>
|
||
|
||
1000Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.9 - 5248232
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>59</td>
|
||
<td>
|
||
|
||
1000Genomes_30x
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.10 - 5227002
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>60</td>
|
||
<td>
|
||
|
||
ExAC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.9 - 5248232
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>61</td>
|
||
<td>
|
||
|
||
gnomAD - Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.10 - 5227002
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>62</td>
|
||
<td>
|
||
|
||
gnomAD - Exomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.9 - 5248232
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>63</td>
|
||
<td>
|
||
|
||
HapMap
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.10 - 5227002
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>64</td>
|
||
<td>
|
||
|
||
KOREAN population from KRGDB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.9 - 5248232
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>65</td>
|
||
<td>
|
||
|
||
Korean Genome Project
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.10 - 5227002
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>66</td>
|
||
<td>
|
||
|
||
Ancient Sardinia genome-wide 1240k capture data generation and analysis
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.9 - 5248232
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>67</td>
|
||
<td>
|
||
|
||
Qatari
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.9 - 5248232
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>68</td>
|
||
<td>
|
||
|
||
SGDP_PRJ
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.9 - 5248232
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>69</td>
|
||
<td>
|
||
|
||
ALFA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000011.10 - 5227002
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>70</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/RCV000016286.7/">RCV000016286.7</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>71</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/RCV000016352.5/">RCV000016352.5</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>72</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/RCV000016573.14/">RCV000016573.14</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>73</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/RCV000016574.54/">RCV000016574.54</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>74</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/RCV000016575.37/">RCV000016575.37</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>75</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/RCV000016576.8/">RCV000016576.8</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>76</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/RCV000016577.8/">RCV000016577.8</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>77</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/RCV000016579.8/">RCV000016579.8</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>78</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/RCV000016580.9/">RCV000016580.9</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>79</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/RCV000016877.8/">RCV000016877.8</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>80</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/RCV000016879.5/">RCV000016879.5</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>81</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/RCV000030905.6/">RCV000030905.6</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>82</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/RCV000224000.29/">RCV000224000.29</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>83</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/RCV000477892.3/">RCV000477892.3</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>84</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/RCV000576548.11/">RCV000576548.11</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>85</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000623118.2/">RCV000623118.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>86</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000723337.4/">RCV000723337.4</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>87</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001104054.3/">RCV001104054.3</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>88</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001192494.2/">RCV001192494.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>89</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001255121.2/">RCV001255121.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>90</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001535873.2/">RCV001535873.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>91</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001777141.2/">RCV001777141.2</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>92</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001824571.5/">RCV001824571.5</a>
|
||
|
||
</td>
|
||
<td>Oct 16, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>93</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV002251908.2/">RCV002251908.2</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="rs3168321">rs3168321</a>
|
||
</td>
|
||
<td>Jul 03, 2002
|
||
(106)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="History" data-ga-action="Click-on"
|
||
data-ga-label="Associated_ID_link"
|
||
ref="section=History&action=Click-on&label=Associated_ID_link"
|
||
href="rs34315575">rs34315575</a>
|
||
</td>
|
||
<td>Oct 16, 2006
|
||
(127)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="History" data-ga-action="Click-on"
|
||
data-ga-label="Associated_ID_link"
|
||
ref="section=History&action=Click-on&label=Associated_ID_link"
|
||
href="rs77121243">rs77121243</a>
|
||
</td>
|
||
<td>Oct 09, 2012
|
||
(136)
|
||
</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>
|
||
|
||
ss168938347,
|
||
|
||
ss491638176
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.8:5204807:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
52416096,
|
||
|
||
466252,
|
||
|
||
7946312,
|
||
|
||
740718,
|
||
|
||
13565172,
|
||
|
||
27569687,
|
||
|
||
ss225064977,
|
||
|
||
ss342316075,
|
||
|
||
ss491010799,
|
||
|
||
ss491445404,
|
||
|
||
ss533576724,
|
||
|
||
ss1067519460,
|
||
|
||
ss1077464818,
|
||
|
||
ss1339939582,
|
||
|
||
ss1690220976,
|
||
|
||
ss1776567973,
|
||
|
||
ss1931523242,
|
||
|
||
ss2738739466,
|
||
|
||
ss2748543909,
|
||
|
||
ss2895840074,
|
||
|
||
ss2984931974,
|
||
|
||
ss3626587887,
|
||
|
||
ss3653703559,
|
||
|
||
ss3824585932,
|
||
|
||
ss3875552707,
|
||
|
||
ss3983994691,
|
||
|
||
ss3985514791,
|
||
|
||
ss3986512434,
|
||
|
||
ss5397462506,
|
||
|
||
ss5650547108,
|
||
|
||
ss5941850074
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.9:5248231:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000016286.7,
|
||
|
||
RCV000016573.14,
|
||
|
||
RCV000016574.54,
|
||
|
||
RCV000016575.37,
|
||
|
||
RCV000016576.8,
|
||
|
||
RCV000016577.8,
|
||
|
||
RCV000016579.8,
|
||
|
||
RCV000016580.9,
|
||
|
||
RCV000016877.8,
|
||
|
||
RCV000016879.5,
|
||
|
||
RCV000030905.6,
|
||
|
||
RCV000224000.29,
|
||
|
||
RCV000477892.3,
|
||
|
||
RCV000576548.11,
|
||
|
||
RCV000623118.2,
|
||
|
||
RCV000723337.4,
|
||
|
||
RCV001104054.3,
|
||
|
||
RCV001192494.2,
|
||
|
||
RCV001255121.2,
|
||
|
||
RCV001535873.2,
|
||
|
||
RCV001777141.2,
|
||
|
||
RCV001824571.5,
|
||
|
||
RCV002251908.2,
|
||
|
||
68820998,
|
||
|
||
370114569,
|
||
|
||
538318,
|
||
|
||
13786692793,
|
||
|
||
ss79088884,
|
||
|
||
ss263198960,
|
||
|
||
ss2179830167,
|
||
|
||
ss3814235341,
|
||
|
||
ss5286250469,
|
||
|
||
ss5481570498,
|
||
|
||
ss5581295063,
|
||
|
||
ss5918652479
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss335,
|
||
|
||
ss24811263,
|
||
|
||
ss48419811,
|
||
|
||
ss49850538,
|
||
|
||
ss49850540,
|
||
|
||
ss49850542,
|
||
|
||
ss49850544,
|
||
|
||
ss49850546,
|
||
|
||
ss49850548,
|
||
|
||
ss49850550,
|
||
|
||
ss49850552,
|
||
|
||
ss49850555,
|
||
|
||
ss65658196,
|
||
|
||
ss69307501,
|
||
|
||
ss159722269,
|
||
|
||
ss212960460
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NT_009237.18:5188231:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss79089796
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:C
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
30952963,
|
||
|
||
ss3923775569
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.9:5248231:T:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000016352.5,
|
||
|
||
25497146,
|
||
|
||
ss79088886,
|
||
|
||
ss263198838,
|
||
|
||
ss3969119145
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss49850554
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NT_009237.18:5188231:T:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000011.10:5227001:T:G
|
||
|
||
|
||
</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">
|
||
112
|
||
citations for rs334
|
||
</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/81926"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">81926</a>
|
||
</td>
|
||
<td class="fir_col">Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells.</td>
|
||
<td>Kan YW et al.</td>
|
||
<td>1978</td>
|
||
<td>Lancet (London, England)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/893143"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">893143</a>
|
||
</td>
|
||
<td class="fir_col">Properties of the double substituted hemoglobin C Ziguinchor alpha2A beta 2 6 Glu replaced by Val 58 Pro replaced by Arg.</td>
|
||
<td>Hassan W et al.</td>
|
||
<td>1977</td>
|
||
<td>Hemoglobin</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/909565"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">909565</a>
|
||
</td>
|
||
<td class="fir_col">Identification of a nondeletion defect in alpha-thalassemia.</td>
|
||
<td>Kan YW et al.</td>
|
||
<td>1977</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1225575"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1225575</a>
|
||
</td>
|
||
<td class="fir_col">Hemoglobin C Ziguinchor alphaA2 beta62 (A3) Glu leads to Val beta58 (E2) Pro leads to Arg: the second sickling variant with amino acid substitutions in 2 residues of the beta polypeptide chain.</td>
|
||
<td>Goossens M et al.</td>
|
||
<td>1975</td>
|
||
<td>FEBS letters</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1301203"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1301203</a>
|
||
</td>
|
||
<td class="fir_col">Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations.</td>
|
||
<td>Prezant TR et al.</td>
|
||
<td>1992</td>
|
||
<td>Human mutation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1376298"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1376298</a>
|
||
</td>
|
||
<td class="fir_col">A novel sickle cell mutation of yet another origin in Africa: the Cameroon type.</td>
|
||
<td>Lapouméroulie C et al.</td>
|
||
<td>1992</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1634360"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1634360</a>
|
||
</td>
|
||
<td class="fir_col">Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.</td>
|
||
<td>Moo-Penn WF et al.</td>
|
||
<td>1992</td>
|
||
<td>Hemoglobin</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1986365"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1986365</a>
|
||
</td>
|
||
<td class="fir_col">Genetic disease detection and DNA amplification using cloned thermostable ligase.</td>
|
||
<td>Barany F et al.</td>
|
||
<td>1991</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2189492"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2189492</a>
|
||
</td>
|
||
<td class="fir_col">Haemoglobin alpha 2 beta 2 23Val----Ile produced in Escherichia coli facilitates Hb S polymerization.</td>
|
||
<td>Pagnier J et al.</td>
|
||
<td>1990</td>
|
||
<td>British journal of haematology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2296310"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2296310</a>
|
||
</td>
|
||
<td class="fir_col">A transgenic mouse model of sickle cell disorder.</td>
|
||
<td>Greaves DR et al.</td>
|
||
<td>1990</td>
|
||
<td>Nature</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2579336"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2579336</a>
|
||
</td>
|
||
<td class="fir_col">Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type.</td>
|
||
<td>Nagel RL et al.</td>
|
||
<td>1985</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2891298"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2891298</a>
|
||
</td>
|
||
<td class="fir_col">Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples.</td>
|
||
<td>Ramsay M et al.</td>
|
||
<td>1987</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2893541"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2893541</a>
|
||
</td>
|
||
<td class="fir_col">Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow.</td>
|
||
<td>Ragusa A et al.</td>
|
||
<td>1988</td>
|
||
<td>American journal of hematology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2898142"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2898142</a>
|
||
</td>
|
||
<td class="fir_col">Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa.</td>
|
||
<td>Chebloune Y et al.</td>
|
||
<td>1988</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2898460"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2898460</a>
|
||
</td>
|
||
<td class="fir_col">Evidence of the African origin of sickle cell hemoglobin in western Sicily.</td>
|
||
<td>Sammarco P et al.</td>
|
||
<td>1988</td>
|
||
<td>Hemoglobin</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2930724"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2930724</a>
|
||
</td>
|
||
<td class="fir_col">A new doubly substituted sickling haemoglobin: HbS-Oman.</td>
|
||
<td>Langdown JV et al.</td>
|
||
<td>1989</td>
|
||
<td>British journal of haematology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3048433"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3048433</a>
|
||
</td>
|
||
<td class="fir_col">Molecular basis and prenatal diagnosis of beta-thalassemia.</td>
|
||
<td>Kazazian HH Jr et al.</td>
|
||
<td>1988</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3191036"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3191036</a>
|
||
</td>
|
||
<td class="fir_col">Hb A-like sickle haemoglobin: Hb S-providence.</td>
|
||
<td>Gale RE et al.</td>
|
||
<td>1988</td>
|
||
<td>British journal of haematology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3354556"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3354556</a>
|
||
</td>
|
||
<td class="fir_col">Sickle cell trait in a white Jewish family presenting as splenic infarction at high altitude.</td>
|
||
<td>Shalev O et al.</td>
|
||
<td>1988</td>
|
||
<td>American journal of hematology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3467311"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3467311</a>
|
||
</td>
|
||
<td class="fir_col">Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes.</td>
|
||
<td>Monplaisir N et al.</td>
|
||
<td>1986</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3690667"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3690667</a>
|
||
</td>
|
||
<td class="fir_col">Position-independent, high-level expression of the human beta-globin gene in transgenic mice.</td>
|
||
<td>Grosveld F et al.</td>
|
||
<td>1987</td>
|
||
<td>Cell</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3752087"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3752087</a>
|
||
</td>
|
||
<td class="fir_col">Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation.</td>
|
||
<td>Kulozik AE et al.</td>
|
||
<td>1986</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3821796"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3821796</a>
|
||
</td>
|
||
<td class="fir_col">Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis.</td>
|
||
<td>Embury SH et al.</td>
|
||
<td>1987</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/4232783"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">4232783</a>
|
||
</td>
|
||
<td class="fir_col">Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies.</td>
|
||
<td>Serjeant GR et al.</td>
|
||
<td>1968</td>
|
||
<td>British medical journal</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/5069596"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">5069596</a>
|
||
</td>
|
||
<td class="fir_col">Identification of haemoglobin C Georgetown.</td>
|
||
<td>Lang A et al.</td>
|
||
<td>1972</td>
|
||
<td>Biochimica et biophysica acta</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/5490239"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">5490239</a>
|
||
</td>
|
||
<td class="fir_col">The effect of beta 73 Asn on the interactions of sickling hemoglobins.</td>
|
||
<td>Bookchin RM et al.</td>
|
||
<td>1970</td>
|
||
<td>Biochimica et biophysica acta</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/5509617"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">5509617</a>
|
||
</td>
|
||
<td class="fir_col">Hemoglobin G Makassar: beta-6 Glu leads to Ala.</td>
|
||
<td>Blackwell RQ et al.</td>
|
||
<td>1970</td>
|
||
<td>Biochimica et biophysica acta</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/5658717"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">5658717</a>
|
||
</td>
|
||
<td class="fir_col">Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala.</td>
|
||
<td>Blackwell RW et al.</td>
|
||
<td>1968</td>
|
||
<td>Science (New York, N.Y.)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/5928902"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">5928902</a>
|
||
</td>
|
||
<td class="fir_col">Hemoglobin C Harlem: a sickling variant containing amino acid substitutions in two residues of the beta-polypeptide chain.</td>
|
||
<td>Bookchin RM et al.</td>
|
||
<td>1966</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6166632"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6166632</a>
|
||
</td>
|
||
<td class="fir_col">Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys).</td>
|
||
<td>Benz EJ Jr et al.</td>
|
||
<td>1981</td>
|
||
<td>The Journal of clinical investigation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6268660"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6268660</a>
|
||
</td>
|
||
<td class="fir_col">Sickle gene. Its origin and diffusion from West Africa.</td>
|
||
<td>Mears JG et al.</td>
|
||
<td>1981</td>
|
||
<td>The Journal of clinical investigation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6272289"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6272289</a>
|
||
</td>
|
||
<td class="fir_col">Direct identification of sickle cell anemia by blot hybridization.</td>
|
||
<td>Geever RF et al.</td>
|
||
<td>1981</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6280057"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6280057</a>
|
||
</td>
|
||
<td class="fir_col">Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.</td>
|
||
<td>Orkin SH et al.</td>
|
||
<td>1982</td>
|
||
<td>Nature</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6285354"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6285354</a>
|
||
</td>
|
||
<td class="fir_col">Use of restriction endonucleases for mapping the allele for beta s-globin.</td>
|
||
<td>Wilson JT et al.</td>
|
||
<td>1982</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6583683"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6583683</a>
|
||
</td>
|
||
<td class="fir_col">Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.</td>
|
||
<td>Antonarakis SE et al.</td>
|
||
<td>1984</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
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</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/6584911"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">6584911</a>
|
||
</td>
|
||
<td class="fir_col">Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.</td>
|
||
<td>Pagnier J et al.</td>
|
||
<td>1984</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
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</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/7993409"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">7993409</a>
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||
</td>
|
||
<td class="fir_col">Mortality in sickle cell disease. Life expectancy and risk factors for early death.</td>
|
||
<td>Platt OS et al.</td>
|
||
<td>1994</td>
|
||
<td>The New England journal of medicine</td>
|
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</tr>
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||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/8199597"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
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||
data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">8199597</a>
|
||
</td>
|
||
<td class="fir_col">Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype.</td>
|
||
<td>Zeng FY et al.</td>
|
||
<td>1994</td>
|
||
<td>Human mutation</td>
|
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</tr>
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|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/8462981"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">8462981</a>
|
||
</td>
|
||
<td class="fir_col">Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.</td>
|
||
<td>Flint J et al.</td>
|
||
<td>1993</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9166865"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9166865</a>
|
||
</td>
|
||
<td class="fir_col">A transgenic mouse model of hemoglobin S Antilles disease.</td>
|
||
<td>Popp RA et al.</td>
|
||
<td>1997</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9834244"
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<td><a target="_blank" href="/pubmed/13115700"
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<td class="fir_col">Protection afforded by sickle-cell trait against subtertian malareal infection.</td>
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<td class="fir_col">A new hemoglobin variant with sickling properties.</td>
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<tr>
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<td><a target="_blank" href="/pubmed/21867552"
|
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<td class="fir_col">Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites.</td>
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<td><a target="_blank" href="/pubmed/21992066"
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<td class="fir_col">Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers.</td>
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<td><a target="_blank" href="/pubmed/22075726"
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<td><a target="_blank" href="/pubmed/22615793"
|
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<td class="fir_col">Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population.</td>
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<td><a target="_blank" href="/pubmed/22905743"
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<td class="fir_col">Genetic polymorphisms associated with anti-malarial antibody levels in a low and unstable malaria transmission area in southern Sri Lanka.</td>
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<td>Dewasurendra RL et al.</td>
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<td><a target="_blank" href="/pubmed/22947458"
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<td class="fir_col">Malaria resistance genes are associated with the levels of IgG subclasses directed against Plasmodium falciparum blood-stage antigens in Burkina Faso.</td>
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<td><a target="_blank" href="/pubmed/22957039"
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<td class="fir_col">Candidate polymorphisms and severe malaria in a Malian population.</td>
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<td><a target="_blank" href="/pubmed/23144702"
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<td class="fir_col">Candidate human genetic polymorphisms and severe malaria in a Tanzanian population.</td>
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<td><a target="_blank" href="/pubmed/23316245"
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<td class="fir_col">The host genetic diversity in malaria infection.</td>
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<td class="fir_col">Genomic architecture of sickle cell disease in West African children.</td>
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<td class="fir_col">Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage.</td>
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<td class="fir_col">Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.</td>
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<td class="fir_col">Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.</td>
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<td class="fir_col">USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania.</td>
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<td class="fir_col">The influence of host genetics on erythrocytes and malaria infection: is there therapeutic potential?</td>
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<td class="fir_col">Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.</td>
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<td class="fir_col">Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia.</td>
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|
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data-ga-label="PMID_link">34090531</a>
|
||
</td>
|
||
<td class="fir_col">Genome-based therapeutic interventions for β-type hemoglobinopathies.</td>
|
||
<td>Karamperis K et al.</td>
|
||
<td>2021</td>
|
||
<td>Human genomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/35811813"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">35811813</a>
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</td>
|
||
<td class="fir_col">G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria.</td>
|
||
<td>Thiam F et al.</td>
|
||
<td>2022</td>
|
||
<td>PeerJ</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/35934714"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">35934714</a>
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</td>
|
||
<td class="fir_col">Risk score prediction model based on single nucleotide polymorphism for predicting malaria: a machine learning approach.</td>
|
||
<td>Tai KY et al.</td>
|
||
<td>2022</td>
|
||
<td>BMC bioinformatics</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
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</div>
|
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<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
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href="/pubmed?term=81926,893143,909565,1225575,1301203,1376298,1634360,1986365,2189492,2296310,2579336,2891298,2893541,2898142,2898460,2930724,3048433,3191036,3354556,3467311,3690667,3752087,3821796,4232783,5069596,5490239,5509617,5658717,5928902,6166632,6268660,6272289,6280057,6285354,6583683,6584911,7993409,8199597,8462981,9166865,9834244,9859938,10203101,11741197,11830454,11880644,12403489,13066514,13115700,13369537,13464827,13852872,13943409,15182055,15395398,15470216,16001361,17287491,17668374,17688704,18048408,18192399,18829352,19039607,19145247,19223928,19281305,19465909,20128890,20226094,20305663,20552021,20556870,20585394,21529713,21867552,21992066,22075726,22615793,22905743,22947458,22957039,23144702,23316245,24592274,24626632,24934404,25741868,25805752,26215182,26314886,26744416,27022141,27185208,27219052,27236921,27351925,28067620,28912365,29526279,31080455,31213470,31448710,31675503,31941490,32641076,33357513,33399855,33857205,34090531,35811813,35934714"
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<div id="flanks" class="js-tabcontent">
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<a data-width="640px" href="#flanks_tp"
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data-ga-label="flanks_tp" class="fa fa-question-circle align-right ncbiPopper">
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<span class="usa-sr-only">Help</span>
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</a>
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<p id="flanks_tp">The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.</p>
|
||
|
||
<div id="flanks_container">
|
||
<div id="context_container">
|
||
<span class="sect_heading">
|
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Genome context:
|
||
</span>
|
||
|
||
<select id="flank_context">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
seq_acc_ver="NC_000011.10" position="5227002"
|
||
assmacc="GCF_000001405.40" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
GRCh38.p14 ( NC_000011.10 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
seq_acc_ver="NC_000011.9" position="5248232"
|
||
assmacc="GCF_000001405.25" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
GRCh37.p13 ( NC_000011.9 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
seq_acc_ver="NG_000007.3" position="70614"
|
||
assmacc="" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
NG_000007.3
|
||
|
||
</option>
|
||
|
||
<option value="option4"
|
||
|
||
seq_acc_ver="NG_059281.1" position="5070"
|
||
assmacc="" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
NG_059281.1
|
||
|
||
</option>
|
||
|
||
<option value="option5"
|
||
|
||
seq_acc_ver="NG_046672.1" position="4937"
|
||
assmacc="" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
NG_046672.1
|
||
|
||
</option>
|
||
|
||
<option value="option6"
|
||
|
||
seq_acc_ver="NG_042296.1" position="533"
|
||
assmacc="" ref_allele="T"
|
||
variant_type="snv">
|
||
|
||
NG_042296.1
|
||
|
||
</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>
|
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<div id="flanking_sequence">
|
||
</div>
|
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</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
<div class="usa-row">
|
||
<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
|
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<div>
|
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<span><a href="#top" ref="section=Sequence Viewer&action=Click-on&label=Top_link"
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data-section="Sequence Viewer" data-ga-action="Click-on"
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data-ga-label="Top_link">Top</a></span><span>▲</span>
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<a data-width="640px" href="#sequence_viewer_tp"
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<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>
|
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|
||
</div>
|
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</h3>
|
||
<div id="sequence">
|
||
|
||
<div id="seq_div" class="usa-width-one-whole">
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||
<label for="seq_sel">Choose placement</label>
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<select id="seq_sel">
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|
||
<option value="option1"
|
||
selected="selected"
|
||
data-svparams="id=NC_000011.10&assm_context=GCF_000001405.40&v=5226952.0:5227052.0&mk=5227002|rs334!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="334">
|
||
|
||
GRCh38.p14 ( NC_000011.10 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
data-svparams="id=NC_000011.9&assm_context=GCF_000001405.25&v=5248182.0:5248282.0&mk=5248232|rs334!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="334">
|
||
|
||
GRCh37.p13 ( NC_000011.9 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
data-svparams="id=NG_000007.3&assm_context=&v=70564.0:70664.0&mk=70614|rs334!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="334">
|
||
|
||
NG_000007.3
|
||
|
||
</option>
|
||
|
||
<option value="option4"
|
||
|
||
data-svparams="id=NG_059281.1&assm_context=&v=5020.0:5120.0&mk=5070|rs334!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="334">
|
||
|
||
NG_059281.1
|
||
|
||
</option>
|
||
|
||
<option value="option5"
|
||
|
||
data-svparams="id=NG_046672.1&assm_context=&v=4887.0:4987.0&mk=4937|rs334!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="334">
|
||
|
||
NG_046672.1
|
||
|
||
</option>
|
||
|
||
<option value="option6"
|
||
|
||
data-svparams="id=NG_042296.1&assm_context=&v=483.0:583.0&mk=533|rs334!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="334">
|
||
|
||
NG_042296.1
|
||
|
||
</option>
|
||
|
||
</select>
|
||
<div class="align-right">
|
||
<a href="#"
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ref="section=Sequence Viewer&action=Click-on&label=See_rs_in_Variation_Viewer_link"
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data-section="Sequence Viewer" data-ga-action="Click-on"
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|
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<button title="see rs334 and neighboring variants in Variation Viewer"
|
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class="usa-button-outline" id="variation_viewer_btn" type="button">See rs334
|
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in Variation Viewer
|
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</button>
|
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</a>
|
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</div>
|
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</div>
|
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<div class="usa-width-one-whole">
|
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<div id="sv1" class="SeqViewerApp align-right">
|
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|
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<a href="?embedded=true&app_context=Variation_Viewer_2-1&id=NC_000011.10"
|
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aria-hidden="true"></a>
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</div>
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</div>
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