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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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<h3 class="usa-alert-heading">Welcome to the Reference SNP (rs) Report</h3>
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<p class="usa-alert-text">All alleles are reported in the <a href="https://www.ncbi.nlm.nih.gov/core/assets/snp/docs/RefSNP_orientation_updates.pdf" target="_blank"
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data-ga-label="Forward orientation">Variant Details tab</a> for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the
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<h3>Reference SNP (rs) Report</h3>
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</div>
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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/113993960"
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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">rs113993960</h2>
|
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</div>
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</div>
|
||
<div class="accession usa-width-one-third">
|
||
<p>Current Build <span>156</span></p>
|
||
<p>Released <span>
|
||
|
||
September 21, 2022
|
||
|
||
</span></p>
|
||
</div>
|
||
</div>
|
||
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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>chr7:117559591-117559594 </span><span>(GRCh38.p14) </span><a data-width="640px" href="#pos_tp"
|
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ref="section=Summary&action=Click-on-Tooltip&label=pos_tp"
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data-section="Summary" data-ga-action="Click-on-Tooltip"
|
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data-ga-label="pos_tp" class="fa fa-question-circle ncbiPopper" id="position_tooltip"><span class="usa-sr-only">Help</span></a><p id="pos_tp">The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See <a href="/snp/docs/refsnp_report/helpdoc/">here</a> for details.</p>
|
||
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Alleles</dt>
|
||
<dd>
|
||
|
||
|
||
delCTT / dupCTT
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
Indel
|
||
|
||
|
||
|
||
<span class="small-font gray">Insertion and Deletion</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div>
|
||
delCTT=0.007851
|
||
(2078/264690, TOPMED)
|
||
</div><div>
|
||
delCTT=0.007068
|
||
(1776/251256, GnomAD_exome)
|
||
</div><span>
|
||
delCTT=0.008062 (1130/140170, GnomAD)
|
||
</span><span>(<a id="expandfrequency" data-freq-remn="8"
|
||
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">+ 8 more</a>)</span><div class="ui-widget hide_elm" id="remn_summ_freq"><div>
|
||
delCTT=0.006785
|
||
(823/121296, ExAC)
|
||
</div><div>
|
||
delCTT=0.00312
|
||
(290/92920, ALFA)
|
||
</div><div>
|
||
delCTT=0.00355
|
||
(279/78696, PAGE_STUDY)
|
||
</div><div>
|
||
delCTT=0.0039
|
||
(25/6404, 1000G_30x)
|
||
</div><div>
|
||
delCTT=0.0040
|
||
(20/5008, 1000G)
|
||
</div><div>
|
||
delCTT=0.0071
|
||
(32/4480, Estonian)
|
||
</div><div>
|
||
delCTT=0.019
|
||
(19/998, GoNL)
|
||
</div><div>
|
||
delCTT=0.010
|
||
(6/600, NorthernSweden)
|
||
</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=((22144[AlleleID]))">ClinVar</a>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Gene : Consequence</dt>
|
||
<dd>
|
||
|
||
<div>CFTR : Inframe Deletion</div><span>CFTR-AS1 : Intron Variant</span>
|
||
|
||
</dd>
|
||
|
||
<dt>Publications</dt>
|
||
<dd>
|
||
|
||
<a id="snp_pub_count" href="#publications">52
|
||
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">92920</td>
|
||
<td class="popfreq_ref_allele">TCTT=0.99688</td>
|
||
<td class="popfreq_alt_allele">T=0.00312, TCTTCTT=0.00000</td>
|
||
<td class="popfreq_alt_allele">0.993758</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.006242</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">79898</td>
|
||
<td class="popfreq_ref_allele">TCTT=0.99685</td>
|
||
<td class="popfreq_alt_allele">T=0.00315, TCTTCTT=0.00000</td>
|
||
<td class="popfreq_alt_allele">0.993692</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.006308</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">4292</td>
|
||
<td class="popfreq_ref_allele">TCTT=0.9986</td>
|
||
<td class="popfreq_alt_allele">T=0.0014, TCTTCTT=0.0000</td>
|
||
<td class="popfreq_alt_allele">0.997204</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.002796</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492696">African Others</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">174</td>
|
||
<td class="popfreq_ref_allele">TCTT=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000, TCTTCTT=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492698">African American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4118</td>
|
||
<td class="popfreq_ref_allele">TCTT=0.9985</td>
|
||
<td class="popfreq_alt_allele">T=0.0015, TCTTCTT=0.0000</td>
|
||
<td class="popfreq_alt_allele">0.997086</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.002914</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">3328</td>
|
||
<td class="popfreq_ref_allele">TCTT=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=0.0000, TCTTCTT=0.0000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492697">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2672</td>
|
||
<td class="popfreq_ref_allele">TCTT=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=0.0000, TCTTCTT=0.0000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492701">Other Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">656</td>
|
||
<td class="popfreq_ref_allele">TCTT=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000, TCTTCTT=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">436</td>
|
||
<td class="popfreq_ref_allele">TCTT=0.995</td>
|
||
<td class="popfreq_alt_allele">T=0.005, TCTTCTT=0.000</td>
|
||
<td class="popfreq_alt_allele">0.990826</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.009174</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">928</td>
|
||
<td class="popfreq_ref_allele">TCTT=0.998</td>
|
||
<td class="popfreq_alt_allele">T=0.002, TCTTCTT=0.000</td>
|
||
<td class="popfreq_alt_allele">0.99569</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.00431</td>
|
||
<td class="popfreq_alt_allele">0</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">274</td>
|
||
<td class="popfreq_ref_allele">TCTT=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000, TCTTCTT=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN11605645">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3764</td>
|
||
<td class="popfreq_ref_allele">TCTT=0.9926</td>
|
||
<td class="popfreq_alt_allele">T=0.0074, TCTTCTT=0.0000</td>
|
||
<td class="popfreq_alt_allele">0.985122</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.014878</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/rs113993960/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/PRJNA400167">TopMed</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">264690</td>
|
||
<td>TCTT=0.992149</td>
|
||
<td>delCTT=0.007851</td>
|
||
</tr>
|
||
|
||
|
||
<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">251256</td>
|
||
<td>TCTT=0.992932</td>
|
||
<td>delCTT=0.007068</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">135226</td>
|
||
<td>TCTT=0.989336</td>
|
||
<td>delCTT=0.010664</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">49000</td>
|
||
<td>TCTT=0.99876</td>
|
||
<td>delCTT=0.00124</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">34578</td>
|
||
<td>TCTT=0.99633</td>
|
||
<td>delCTT=0.00367</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">16248</td>
|
||
<td>TCTT=0.99705</td>
|
||
<td>delCTT=0.00295</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">10078</td>
|
||
<td>TCTT=0.99444</td>
|
||
<td>delCTT=0.00556</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">6126</td>
|
||
<td>TCTT=0.9931</td>
|
||
<td>delCTT=0.0069</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">140170</td>
|
||
<td>TCTT=0.991938</td>
|
||
<td>delCTT=0.008062</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">75882</td>
|
||
<td>TCTT=0.98752</td>
|
||
<td>delCTT=0.01248</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">42026</td>
|
||
<td>TCTT=0.99738</td>
|
||
<td>delCTT=0.00262</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">13656</td>
|
||
<td>TCTT=0.99700</td>
|
||
<td>delCTT=0.00300</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">3324</td>
|
||
<td>TCTT=0.9958</td>
|
||
<td>delCTT=0.0042</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">3132</td>
|
||
<td>TCTT=1.0000</td>
|
||
<td>delCTT=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">2150</td>
|
||
<td>TCTT=0.9916</td>
|
||
<td>delCTT=0.0084</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">121296</td>
|
||
<td>TCTT=0.993215</td>
|
||
<td>delCTT=0.006785</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Europe
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">73282</td>
|
||
<td>TCTT=0.99017</td>
|
||
<td>delCTT=0.00983</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">25154</td>
|
||
<td>TCTT=0.99837</td>
|
||
<td>delCTT=0.00163</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">11564</td>
|
||
<td>TCTT=0.99663</td>
|
||
<td>delCTT=0.00337</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">10392</td>
|
||
<td>TCTT=0.99798</td>
|
||
<td>delCTT=0.00202</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8661">ExAC</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486028">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">904</td>
|
||
<td>TCTT=0.998</td>
|
||
<td>delCTT=0.002</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">92920</td>
|
||
<td>TCTT=0.99688</td>
|
||
<td>delCTT=0.00312, dupCTT=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492695">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">79898</td>
|
||
<td>TCTT=0.99685</td>
|
||
<td>delCTT=0.00315, dupCTT=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492703">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4292</td>
|
||
<td>TCTT=0.9986</td>
|
||
<td>delCTT=0.0014, dupCTT=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN11605645">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3764</td>
|
||
<td>TCTT=0.9926</td>
|
||
<td>delCTT=0.0074, dupCTT=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492704">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3328</td>
|
||
<td>TCTT=1.0000</td>
|
||
<td>delCTT=0.0000, dupCTT=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">928</td>
|
||
<td>TCTT=0.998</td>
|
||
<td>delCTT=0.002, dupCTT=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">436</td>
|
||
<td>TCTT=0.995</td>
|
||
<td>delCTT=0.005, dupCTT=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">274</td>
|
||
<td>TCTT=1.000</td>
|
||
<td>delCTT=0.000, dupCTT=0.000</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868975">Global</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">78696</td>
|
||
<td>TCTT=0.99645</td>
|
||
<td>delCTT=0.00355</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868721">AfricanAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">32514</td>
|
||
<td>TCTT=0.99668</td>
|
||
<td>delCTT=0.00332</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868735">Mexican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">10808</td>
|
||
<td>TCTT=0.99528</td>
|
||
<td>delCTT=0.00472</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868722">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">8316</td>
|
||
<td>TCTT=1.0000</td>
|
||
<td>delCTT=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868968">PuertoRican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">7918</td>
|
||
<td>TCTT=0.9975</td>
|
||
<td>delCTT=0.0025</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868777">NativeHawaiian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4534</td>
|
||
<td>TCTT=0.9963</td>
|
||
<td>delCTT=0.0037</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868733">Cuban</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4230</td>
|
||
<td>TCTT=0.9941</td>
|
||
<td>delCTT=0.0059</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868734">Dominican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3828</td>
|
||
<td>TCTT=0.9950</td>
|
||
<td>delCTT=0.0050</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868729">CentralAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2450</td>
|
||
<td>TCTT=0.9963</td>
|
||
<td>delCTT=0.0037</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868969">SouthAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1982</td>
|
||
<td>TCTT=0.9965</td>
|
||
<td>delCTT=0.0035</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868739">NativeAmerican</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1260</td>
|
||
<td>TCTT=0.9841</td>
|
||
<td>delCTT=0.0159</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10868970">SouthAsian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">856</td>
|
||
<td>TCTT=0.996</td>
|
||
<td>delCTT=0.004</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>TCTT=0.9961</td>
|
||
<td>delCTT=0.0039</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>TCTT=1.0000</td>
|
||
<td>delCTT=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB31736">1000Genomes_30x</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07488239">Europe</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1266</td>
|
||
<td>TCTT=0.9913</td>
|
||
<td>delCTT=0.0087</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>TCTT=0.9967</td>
|
||
<td>delCTT=0.0033</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>TCTT=1.0000</td>
|
||
<td>delCTT=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>TCTT=0.990</td>
|
||
<td>delCTT=0.010</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>TCTT=0.9960</td>
|
||
<td>delCTT=0.0040</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>TCTT=1.0000</td>
|
||
<td>delCTT=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB6930">1000Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN07486024">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1008</td>
|
||
<td>TCTT=1.0000</td>
|
||
<td>delCTT=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>TCTT=0.9911</td>
|
||
<td>delCTT=0.0089</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>TCTT=0.996</td>
|
||
<td>delCTT=0.004</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>TCTT=0.990</td>
|
||
<td>delCTT=0.010</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA489787">Genetic variation in the Estonian population</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Estonian
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">4480</td>
|
||
<td>TCTT=0.9929</td>
|
||
<td>delCTT=0.0071</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB5829">Genome of the Netherlands Release 5</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13000132">Genome of the Netherlands</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">998</td>
|
||
<td>TCTT=0.981</td>
|
||
<td>delCTT=0.019</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PPRJNA503394">Northern Sweden</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10359154">ACPOP</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">600</td>
|
||
<td>TCTT=0.990</td>
|
||
<td>delCTT=0.010</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 7</td>
|
||
<td>NC_000007.14:g.117559592_117559594del</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 7</td>
|
||
<td>NC_000007.14:g.117559592_117559594dup</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 7</td>
|
||
<td>NC_000007.13:g.117199646_117199648del</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 7</td>
|
||
<td>NC_000007.13:g.117199646_117199648dup</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>CFTR RefSeqGene (LRG_663)</td>
|
||
<td>NG_016465.4:g.98809_98811del</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>CFTR RefSeqGene (LRG_663)</td>
|
||
<td>NG_016465.4:g.98809_98811dup</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/1080">CFTR</a>, CF transmembrane conductance regulator
|
||
(plus strand)
|
||
|
||
</div>
|
||
<table class="trans_anno_allele_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Molecule type</th>
|
||
<th>Change</th>
|
||
<th>Amino acid[Codon]</th>
|
||
<th>SO Term</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr class="vard_odd">
|
||
<td>CFTR transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000492.4:c.1521_1523del
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">F [</span><span class="codon-ghost">AT</span><span class="codon-hilite">CT</span><span class="codon-plain">] > [</span><span class="codon-ghost">AT</span><span class="codon-hilite">T</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>cystic fibrosis transmembrane conductance regulator</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000483.3:p.Phe508del
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
F (Phe) > ()
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Inframe Deletion
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>CFTR transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_000492.4:c.1521_1523dup
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">F [</span><span class="codon-ghost">TT</span><span class="codon-hilite">T</span><span class="codon-plain">] > FF [</span><span class="codon-ghost">TT</span><span class="codon-hilite">CTTT</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>cystic fibrosis transmembrane conductance regulator</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_000483.3:p.Phe508dup
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
F (Phe) > FF (PhePhe)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Inframe Insertion
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
<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/111082987">CFTR-AS1</a>, CFTR antisense RNA 1
|
||
(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>CFTR-AS1 transcript</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NR_149084.1:n.
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
|
||
N/A
|
||
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Intron 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: delCTT (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(22144[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
22144
|
||
</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/RCV000007523.46">RCV000007523.46</a>
|
||
</td>
|
||
<td>Cystic fibrosis</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/RCV000007524.11">RCV000007524.11</a>
|
||
</td>
|
||
<td>Bronchiectasis with or without elevated sweat chloride 1, modifier of</td>
|
||
<td>Risk-Factor</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/RCV000058929.43">RCV000058929.43</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/RCV000119038.7">RCV000119038.7</a>
|
||
</td>
|
||
<td>Hereditary pancreatitis</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/RCV000624683.2">RCV000624683.2</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/RCV000626692.2">RCV000626692.2</a>
|
||
</td>
|
||
<td>Duodenal stenosis</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000626693.2">RCV000626693.2</a>
|
||
</td>
|
||
<td>Recurrent pancreatitis</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/RCV000785641.2">RCV000785641.2</a>
|
||
</td>
|
||
<td>Cystic fibrosis</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/RCV001000022.5">RCV001000022.5</a>
|
||
</td>
|
||
<td>not specified</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001004459.3">RCV001004459.3</a>
|
||
</td>
|
||
<td>Congenital bilateral aplasia of vas deferens from CFTR mutation,Cystic fibrosis</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/RCV001642198.2">RCV001642198.2</a>
|
||
</td>
|
||
<td>Obstructive azoospermia</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/RCV001787370.2">RCV001787370.2</a>
|
||
</td>
|
||
<td>ivacaftor / lumacaftor response - Efficacy</td>
|
||
<td>Drug-Response</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001787371.2">RCV001787371.2</a>
|
||
</td>
|
||
<td>ivacaftor / tezacaftor response - Efficacy</td>
|
||
<td>Drug-Response</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001831519.3">RCV001831519.3</a>
|
||
</td>
|
||
<td>CFTR-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/RCV002243627.2">RCV002243627.2</a>
|
||
</td>
|
||
<td>Cystic fibrosis,Hereditary pancreatitis</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/RCV002251888.2">RCV002251888.2</a>
|
||
</td>
|
||
<td>See cases</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="hgvs_tab" class="js-tabcontent">
|
||
<a data-width="640px" href="#aliases_tp"
|
||
ref="section=HGVS&action=Click-on-Tooltip&label=aliases_tp"
|
||
data-section="HGVS" data-ga-action="Click-on-Tooltip" data-ga-label="aliases_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="aliases_tp">
|
||
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. <a href="http://varnomen.hgvs.org/">HGVS name</a> is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".</p>
|
||
|
||
<div id="hgvs">
|
||
<table id="alliases_alleles_datatable" class="stripe">
|
||
<thead class="allele_wrap">
|
||
<tr>
|
||
<th>Placement</th>
|
||
|
||
<th>
|
||
TCTT=
|
||
</th>
|
||
|
||
<th>
|
||
delCTT
|
||
</th>
|
||
|
||
<th>
|
||
dupCTT
|
||
</th>
|
||
|
||
</tr>
|
||
</thead>
|
||
<tbody class="allele_wrap">
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh38.p14 chr 7
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.117559591_117559594=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.117559592_117559594del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.117559592_117559594dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr 7
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.117199645_117199648=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.117199646_117199648del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.117199646_117199648dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
CFTR RefSeqGene (LRG_663)
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_016465.4:g.98808_98811=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_016465.4:g.98809_98811del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_016465.4:g.98809_98811dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
CFTR transcript
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000492.4:c.1520_1523=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000492.4:c.1521_1523del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000492.4:c.1521_1523dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
CFTR transcript
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000492.3:c.1520_1523=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000492.3:c.1521_1523del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_000492.3:c.1521_1523dup
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
cystic fibrosis transmembrane conductance regulator
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000483.3:p.Ile507_Phe508=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000483.3:p.Phe508del
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_000483.3:p.Phe508dup
|
||
</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">
|
||
|
||
41 SubSNP,
|
||
|
||
11 Frequency,
|
||
|
||
16 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>
|
||
|
||
SNPEDIA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss252440416">ss252440416</a>
|
||
|
||
</td>
|
||
<td>Jul 08, 2010
|
||
(132)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</td>
|
||
<td>
|
||
|
||
NCBI-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=ss263192966">ss263192966</a>
|
||
|
||
</td>
|
||
<td>Apr 19, 2012
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>3</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=ss499991547">ss499991547</a>
|
||
|
||
</td>
|
||
<td>May 04, 2012
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>4</td>
|
||
<td>
|
||
|
||
EVA-GONL
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss984713522">ss984713522</a>
|
||
|
||
</td>
|
||
<td>Aug 21, 2014
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</td>
|
||
<td>
|
||
|
||
1000GENOMES
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1377595314">ss1377595314</a>
|
||
|
||
</td>
|
||
<td>Aug 21, 2014
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>6</td>
|
||
<td>
|
||
|
||
EVA_DECODE
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1594298901">ss1594298901</a>
|
||
|
||
</td>
|
||
<td>Apr 01, 2015
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</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=ss1711868788">ss1711868788</a>
|
||
|
||
</td>
|
||
<td>Apr 01, 2015
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</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="/projects/SNP/snp_ss.cgi?subsnp_id=ss1751113321">ss1751113321</a>
|
||
|
||
</td>
|
||
<td>May 21, 2015
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1959046051">ss1959046051</a>
|
||
|
||
</td>
|
||
<td>Feb 12, 2016
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>10</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1959046052">ss1959046052</a>
|
||
|
||
</td>
|
||
<td>Feb 12, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>11</td>
|
||
<td>
|
||
|
||
JJLAB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2030866475">ss2030866475</a>
|
||
|
||
</td>
|
||
<td>Sep 14, 2016
|
||
(136)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>12</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=ss2985418268">ss2985418268</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>13</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=ss2986049754">ss2986049754</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>14</td>
|
||
<td>
|
||
|
||
SWEGEN
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3001909639">ss3001909639</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>15</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=ss3022772844">ss3022772844</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>16</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3022772845">ss3022772845</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>17</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=ss3022772847">ss3022772847</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>18</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3653307715">ss3653307715</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>19</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3653307716">ss3653307716</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>20</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3653307718">ss3653307718</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>21</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3654179659">ss3654179659</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>22</td>
|
||
<td>
|
||
|
||
EGCUT_WGS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3669661275">ss3669661275</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>23</td>
|
||
<td>
|
||
|
||
EVA_DECODE
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3720540645">ss3720540645</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>24</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3726475926">ss3726475926</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>25</td>
|
||
<td>
|
||
|
||
ILLUMINA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3726475928">ss3726475928</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>26</td>
|
||
<td>
|
||
|
||
ACPOP
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3735003910">ss3735003910</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>27</td>
|
||
<td>
|
||
|
||
PAGE_CC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3771394296">ss3771394296</a>
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>28</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=ss3824311653">ss3824311653</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>29</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=ss3986397108">ss3986397108</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>30</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=ss4171647834">ss4171647834</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>31</td>
|
||
<td>
|
||
|
||
TOPMED
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss4760956788">ss4760956788</a>
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>32</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=ss5237649999">ss5237649999</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>33</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=ss5274466901">ss5274466901</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>34</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=ss5471381085">ss5471381085</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>35</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=ss5512473867">ss5512473867</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>36</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=ss5563476797">ss5563476797</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>37</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=ss5624673295">ss5624673295</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>38</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=ss5643832132">ss5643832132</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>39</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=ss5823421268">ss5823421268</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>40</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=ss5848691191">ss5848691191</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>41</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=ss5973021787">ss5973021787</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>42</td>
|
||
<td>
|
||
|
||
1000Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.13 - 117199645
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>43</td>
|
||
<td>
|
||
|
||
1000Genomes_30x
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.14 - 117559591
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>44</td>
|
||
<td>
|
||
|
||
Genetic variation in the Estonian population
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.13 - 117199645
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>45</td>
|
||
<td>
|
||
|
||
ExAC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.13 - 117199645
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>46</td>
|
||
<td>
|
||
|
||
gnomAD - Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.14 - 117559591
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>47</td>
|
||
<td>
|
||
|
||
gnomAD - Exomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.13 - 117199645
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>48</td>
|
||
<td>
|
||
|
||
Genome of the Netherlands Release 5
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.13 - 117199645
|
||
|
||
</td>
|
||
<td>Apr 26, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>49</td>
|
||
<td>
|
||
|
||
Northern Sweden
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.13 - 117199645
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>50</td>
|
||
<td>
|
||
|
||
The PAGE Study
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.14 - 117559591
|
||
|
||
</td>
|
||
<td>Jul 13, 2019
|
||
(153)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>51</td>
|
||
<td>
|
||
|
||
TopMed
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.14 - 117559591
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>52</td>
|
||
<td>
|
||
|
||
ALFA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000007.14 - 117559591
|
||
|
||
</td>
|
||
<td>Apr 26, 2021
|
||
(155)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>53</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/RCV000007523.46/">RCV000007523.46</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>54</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000007524.11/">RCV000007524.11</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>55</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000058929.43/">RCV000058929.43</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>56</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000119038.7/">RCV000119038.7</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>57</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000624683.2/">RCV000624683.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>58</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/RCV000626692.2/">RCV000626692.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>59</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/RCV000626693.2/">RCV000626693.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>60</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/RCV000785641.2/">RCV000785641.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>61</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/RCV001000022.5/">RCV001000022.5</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>62</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/RCV001004459.3/">RCV001004459.3</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>63</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/RCV001642198.2/">RCV001642198.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>64</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/RCV001787370.2/">RCV001787370.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>65</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/RCV001787371.2/">RCV001787371.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>66</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/RCV001831519.3/">RCV001831519.3</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>67</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/RCV002243627.2/">RCV002243627.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>68</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/RCV002251888.2/">RCV002251888.2</a>
|
||
|
||
</td>
|
||
<td>Oct 13, 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="rs199826652">rs199826652</a>
|
||
</td>
|
||
<td>Feb 27, 2017
|
||
(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>
|
||
|
||
ss1594298901
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.12:116986880:TCT:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
38857340,
|
||
|
||
15399523,
|
||
|
||
8997799,
|
||
|
||
5884023,
|
||
|
||
9646381,
|
||
|
||
8288775,
|
||
|
||
ss499991547,
|
||
|
||
ss984713522,
|
||
|
||
ss1377595314,
|
||
|
||
ss1711868788,
|
||
|
||
ss1959046051,
|
||
|
||
ss2030866475,
|
||
|
||
ss2985418268,
|
||
|
||
ss3001909639,
|
||
|
||
ss3022772844,
|
||
|
||
ss3022772845,
|
||
|
||
ss3653307715,
|
||
|
||
ss3653307716,
|
||
|
||
ss3654179659,
|
||
|
||
ss3669661275,
|
||
|
||
ss3735003910,
|
||
|
||
ss3824311653,
|
||
|
||
ss3986397108,
|
||
|
||
ss5512473867,
|
||
|
||
ss5643832132,
|
||
|
||
ss5823421268,
|
||
|
||
ss5973021787
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.13:117199644:TCT:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss1959046052,
|
||
|
||
ss2986049754,
|
||
|
||
ss3022772847,
|
||
|
||
ss3653307718,
|
||
|
||
ss5624673295,
|
||
|
||
ss5848691191
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.13:117199645:CTT:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
51002732,
|
||
|
||
274336755,
|
||
|
||
615765,
|
||
|
||
598334347,
|
||
|
||
ss1751113321,
|
||
|
||
ss3720540645,
|
||
|
||
ss3726475926,
|
||
|
||
ss3771394296,
|
||
|
||
ss4171647834,
|
||
|
||
ss4760956788,
|
||
|
||
ss5237649999,
|
||
|
||
ss5274466901,
|
||
|
||
ss5471381085,
|
||
|
||
ss5563476797
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCT:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000007523.46,
|
||
|
||
RCV000007524.11,
|
||
|
||
RCV000058929.43,
|
||
|
||
RCV000119038.7,
|
||
|
||
RCV000624683.2,
|
||
|
||
RCV000626692.2,
|
||
|
||
RCV000626693.2,
|
||
|
||
RCV000785641.2,
|
||
|
||
RCV001000022.5,
|
||
|
||
RCV001004459.3,
|
||
|
||
RCV001642198.2,
|
||
|
||
RCV001787370.2,
|
||
|
||
RCV001787371.2,
|
||
|
||
RCV001831519.3,
|
||
|
||
RCV002243627.2,
|
||
|
||
RCV002251888.2,
|
||
|
||
8392535859
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss252440416,
|
||
|
||
ss263192966,
|
||
|
||
ss3726475928
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559591:CTT:
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
8392535859
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:TCTTCTT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:117559590:TCTT:TCTTCTT
|
||
|
||
|
||
</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">
|
||
52
|
||
citations for rs113993960
|
||
</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/1370875"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1370875</a>
|
||
</td>
|
||
<td class="fir_col">Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.</td>
|
||
<td>Casals T et al.</td>
|
||
<td>1992</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1377276"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1377276</a>
|
||
</td>
|
||
<td class="fir_col">Cystic fibrosis mutations delta F508 and G542X in Jewish patients.</td>
|
||
<td>Lerer I et al.</td>
|
||
<td>1992</td>
|
||
<td>Journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1381146"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1381146</a>
|
||
</td>
|
||
<td class="fir_col">CFTR!</td>
|
||
<td>Fuller CM et al.</td>
|
||
<td>1992</td>
|
||
<td>The American journal of physiology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1384321"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1384321</a>
|
||
</td>
|
||
<td class="fir_col">Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.</td>
|
||
<td>Grebe TA et al.</td>
|
||
<td>1992</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1536179"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1536179</a>
|
||
</td>
|
||
<td class="fir_col">Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.</td>
|
||
<td>Rozen R et al.</td>
|
||
<td>1992</td>
|
||
<td>American journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1673094"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1673094</a>
|
||
</td>
|
||
<td class="fir_col">Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.</td>
|
||
<td>Wauters JG et al.</td>
|
||
<td>1991</td>
|
||
<td>Clinical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1756602"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1756602</a>
|
||
</td>
|
||
<td class="fir_col">Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).</td>
|
||
<td>Daigneault J et al.</td>
|
||
<td>1991</td>
|
||
<td>Clinical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1937486"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1937486</a>
|
||
</td>
|
||
<td class="fir_col">Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).</td>
|
||
<td>De Braekeleer M et al.</td>
|
||
<td>1991</td>
|
||
<td>Human heredity</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/1997384"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">1997384</a>
|
||
</td>
|
||
<td class="fir_col">A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.</td>
|
||
<td>Gille C et al.</td>
|
||
<td>1991</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2210767"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2210767</a>
|
||
</td>
|
||
<td class="fir_col">Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).</td>
|
||
<td></td>
|
||
<td>1990</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2220803"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2220803</a>
|
||
</td>
|
||
<td class="fir_col">Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.</td>
|
||
<td>Rozen R et al.</td>
|
||
<td>1990</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2236053"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2236053</a>
|
||
</td>
|
||
<td class="fir_col">Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.</td>
|
||
<td>Kerem BS et al.</td>
|
||
<td>1990</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2300168"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2300168</a>
|
||
</td>
|
||
<td class="fir_col">PCR test for cystic fibrosis deletion.</td>
|
||
<td>Ballabio A et al.</td>
|
||
<td>1990</td>
|
||
<td>Nature</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2475911"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2475911</a>
|
||
</td>
|
||
<td class="fir_col">Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.</td>
|
||
<td>Riordan JR et al.</td>
|
||
<td>1989</td>
|
||
<td>Science (New York, N.Y.)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2570460"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2570460</a>
|
||
</td>
|
||
<td class="fir_col">Identification of the cystic fibrosis gene: genetic analysis.</td>
|
||
<td>Kerem B et al.</td>
|
||
<td>1989</td>
|
||
<td>Science (New York, N.Y.)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/7509564"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">7509564</a>
|
||
</td>
|
||
<td class="fir_col">Genetic analysis of Hispanic individuals with cystic fibrosis.</td>
|
||
<td>Grebe TA et al.</td>
|
||
<td>1994</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/7537148"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">7537148</a>
|
||
</td>
|
||
<td class="fir_col">Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.</td>
|
||
<td>Russo MP et al.</td>
|
||
<td>1995</td>
|
||
<td>Human mutation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9135274"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9135274</a>
|
||
</td>
|
||
<td class="fir_col">delta F508 in cystic fibrosis: willing but not able.</td>
|
||
<td>Southern KW et al.</td>
|
||
<td>1997</td>
|
||
<td>Archives of disease in childhood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9439669"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9439669</a>
|
||
</td>
|
||
<td class="fir_col">High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.</td>
|
||
<td>Casals T et al.</td>
|
||
<td>1997</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/11280952"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">11280952</a>
|
||
</td>
|
||
<td class="fir_col">Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.</td>
|
||
<td>Grody WW et al.</td>
|
||
<td>2001</td>
|
||
<td>Genetics in medicine </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15141088"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15141088</a>
|
||
</td>
|
||
<td class="fir_col">Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation.</td>
|
||
<td>Cormet-Boyaka E et al.</td>
|
||
<td>2004</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15246977"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15246977</a>
|
||
</td>
|
||
<td class="fir_col">Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice.</td>
|
||
<td>van Heeckeren AM et al.</td>
|
||
<td>2004</td>
|
||
<td>American journal of physiology. Lung cellular and molecular physiology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15367919"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15367919</a>
|
||
</td>
|
||
<td class="fir_col">Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.</td>
|
||
<td>De Rose V et al.</td>
|
||
<td>2005</td>
|
||
<td>European journal of human genetics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15371902"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15371902</a>
|
||
</td>
|
||
<td class="fir_col">Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.</td>
|
||
<td>Watson MS et al.</td>
|
||
<td>2004</td>
|
||
<td>Genetics in medicine </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15948195"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15948195</a>
|
||
</td>
|
||
<td class="fir_col">Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.</td>
|
||
<td>Quint A et al.</td>
|
||
<td>2005</td>
|
||
<td>American journal of medical genetics. Part A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17206681"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17206681</a>
|
||
</td>
|
||
<td class="fir_col">Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease.</td>
|
||
<td>Bresso F et al.</td>
|
||
<td>2007</td>
|
||
<td>Inflammatory bowel diseases</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17413420"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17413420</a>
|
||
</td>
|
||
<td class="fir_col">Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.</td>
|
||
<td>Grangeia A et al.</td>
|
||
<td>2007</td>
|
||
<td>Genetics in medicine </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17692578"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17692578</a>
|
||
</td>
|
||
<td class="fir_col">Liquid movement across the surface epithelium of large airways.</td>
|
||
<td>Chambers LA et al.</td>
|
||
<td>2007</td>
|
||
<td>Respiratory physiology & neurobiology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18507830"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18507830</a>
|
||
</td>
|
||
<td class="fir_col">Could a defective epithelial sodium channel lead to bronchiectasis.</td>
|
||
<td>Fajac I et al.</td>
|
||
<td>2008</td>
|
||
<td>Respiratory research</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19774621"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19774621</a>
|
||
</td>
|
||
<td class="fir_col">Clinical and molecular characterization of S1118F-CFTR.</td>
|
||
<td>Penmatsa H et al.</td>
|
||
<td>2009</td>
|
||
<td>Pediatric pulmonology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19846789"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19846789</a>
|
||
</td>
|
||
<td class="fir_col">Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770.</td>
|
||
<td>Van Goor F et al.</td>
|
||
<td>2009</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20595578"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20595578</a>
|
||
</td>
|
||
<td class="fir_col">Peripheral protein quality control removes unfolded CFTR from the plasma membrane.</td>
|
||
<td>Okiyoneda T et al.</td>
|
||
<td>2010</td>
|
||
<td>Science (New York, N.Y.)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20705837"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20705837</a>
|
||
</td>
|
||
<td class="fir_col">Cell Biology. The proteome in balance.</td>
|
||
<td>Hutt D et al.</td>
|
||
<td>2010</td>
|
||
<td>Science (New York, N.Y.)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21416780"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21416780</a>
|
||
</td>
|
||
<td class="fir_col">CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.</td>
|
||
<td>Chávez-Saldaña M et al.</td>
|
||
<td>2010</td>
|
||
<td>Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21602569"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21602569</a>
|
||
</td>
|
||
<td class="fir_col">Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant.</td>
|
||
<td>Yu W et al.</td>
|
||
<td>2011</td>
|
||
<td>The Journal of biological chemistry</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21825083"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21825083</a>
|
||
</td>
|
||
<td class="fir_col">Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.</td>
|
||
<td>Clancy JP et al.</td>
|
||
<td>2012</td>
|
||
<td>Thorax</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21976485"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21976485</a>
|
||
</td>
|
||
<td class="fir_col">Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809.</td>
|
||
<td>Van Goor F et al.</td>
|
||
<td>2011</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22293084"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22293084</a>
|
||
</td>
|
||
<td class="fir_col">Ivacaftor potentiation of multiple CFTR channels with gating mutations.</td>
|
||
<td>Yu H et al.</td>
|
||
<td>2012</td>
|
||
<td>Journal of cystic fibrosis </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22383668"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22383668</a>
|
||
</td>
|
||
<td class="fir_col">Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation.</td>
|
||
<td>Flume PA et al.</td>
|
||
<td>2012</td>
|
||
<td>Chest</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22942289"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22942289</a>
|
||
</td>
|
||
<td class="fir_col">Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation-dependent but ATP-independent manner.</td>
|
||
<td>Eckford PD et al.</td>
|
||
<td>2012</td>
|
||
<td>The Journal of biological chemistry</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22981120"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22981120</a>
|
||
</td>
|
||
<td class="fir_col">A population-based study of autosomal-recessive disease-causing mutations in a founder population.</td>
|
||
<td>Chong JX et al.</td>
|
||
<td>2012</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22992668"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22992668</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogenomics knowledge for personalized medicine.</td>
|
||
<td>Whirl-Carrillo M et al.</td>
|
||
<td>2012</td>
|
||
<td>Clinical pharmacology and therapeutics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23757202"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23757202</a>
|
||
</td>
|
||
<td class="fir_col">Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.</td>
|
||
<td>Bean LJ et al.</td>
|
||
<td>2013</td>
|
||
<td>Human mutation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23974870"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23974870</a>
|
||
</td>
|
||
<td class="fir_col">Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.</td>
|
||
<td>Sosnay PR et al.</td>
|
||
<td>2013</td>
|
||
<td>Nature genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24033266"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24033266</a>
|
||
</td>
|
||
<td class="fir_col">A systematic approach to assessing the clinical significance of genetic variants.</td>
|
||
<td>Duzkale H et al.</td>
|
||
<td>2013</td>
|
||
<td>Clinical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24559724"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24559724</a>
|
||
</td>
|
||
<td class="fir_col">Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens.</td>
|
||
<td>Lu S et al.</td>
|
||
<td>2014</td>
|
||
<td>Fertility and sterility</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24973281"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24973281</a>
|
||
</td>
|
||
<td class="fir_col">A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial.</td>
|
||
<td>Boyle MP et al.</td>
|
||
<td>2014</td>
|
||
<td>The Lancet. Respiratory medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25741868"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25741868</a>
|
||
</td>
|
||
<td class="fir_col">Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.</td>
|
||
<td>Richards S et al.</td>
|
||
<td>2015</td>
|
||
<td>Genetics in medicine </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25981758"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25981758</a>
|
||
</td>
|
||
<td class="fir_col">Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.</td>
|
||
<td>Wainwright CE et al.</td>
|
||
<td>2015</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/26968770"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">26968770</a>
|
||
</td>
|
||
<td class="fir_col">Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy.</td>
|
||
<td>Birket SE et al.</td>
|
||
<td>2016</td>
|
||
<td>American journal of physiology. Lung cellular and molecular physiology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/27214033"
|
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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">27214033</a>
|
||
</td>
|
||
<td class="fir_col">Mechanistic Approaches to Improve Correction of the Most Common Disease-Causing Mutation in Cystic Fibrosis.</td>
|
||
<td>Bali V et al.</td>
|
||
<td>2016</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/27298017"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">27298017</a>
|
||
</td>
|
||
<td class="fir_col">Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup: a pooled analysis.</td>
|
||
<td>Elborn JS et al.</td>
|
||
<td>2016</td>
|
||
<td>The Lancet. Respiratory medicine</td>
|
||
</tr>
|
||
|
||
</tbody>
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</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=1370875,1377276,1381146,1384321,1536179,1673094,1756602,1937486,1997384,2210767,2220803,2236053,2300168,2475911,2570460,7509564,7537148,9135274,9439669,11280952,15141088,15246977,15367919,15371902,15948195,17206681,17413420,17692578,18507830,19774621,19846789,20595578,20705837,21416780,21602569,21825083,21976485,22293084,22383668,22942289,22981120,22992668,23757202,23974870,24033266,24559724,24973281,25741868,25981758,26968770,27214033,27298017"
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<p id="flanks_tp">The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.</p>
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<div id="flanks_container">
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<div id="context_container">
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<span class="sect_heading">
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Genome context:
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<select id="flank_context">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
seq_acc_ver="NC_000007.14" position="117559591:117559594"
|
||
assmacc="GCF_000001405.40" ref_allele="TCTT"
|
||
variant_type="delins">
|
||
|
||
GRCh38.p14 ( NC_000007.14 )
|
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|
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</option>
|
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|
||
<option value="option2"
|
||
|
||
seq_acc_ver="NC_000007.13" position="117199645:117199648"
|
||
assmacc="GCF_000001405.25" ref_allele="TCTT"
|
||
variant_type="delins">
|
||
|
||
GRCh37.p13 ( NC_000007.13 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
seq_acc_ver="NG_016465.4" position="98808:98811"
|
||
assmacc="" ref_allele="TCTT"
|
||
variant_type="delins">
|
||
|
||
NG_016465.4
|
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|
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</option>
|
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|
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</select>
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</div>
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<span class="sect_heading">
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Select flank length:
|
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</span>
|
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<select id="flank_length">
|
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|
||
|
||
<option value="25"
|
||
selected="selected">
|
||
25 nt</option>
|
||
|
||
<option value="50"
|
||
>
|
||
50 nt</option>
|
||
|
||
<option value="100"
|
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>
|
||
100 nt</option>
|
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|
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<option value="200"
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>
|
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200 nt</option>
|
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</select>
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<button id="retrieve_flank" class="usa-button-outline" type="button">Retrieve</button>
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<div id="flanking_sequence">
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|
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</div>
|
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</div>
|
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<div class="usa-row">
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<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
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<div>
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<span><a href="#top" ref="section=Sequence Viewer&action=Click-on&label=Top_link"
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</a>
|
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<p id="sequence_viewer_tp">
|
||
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).<br/>
|
||
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.<br/>
|
||
Visit <a class="external-link" href="/tools/sviewer/" target="_blank">Sequence Viewer</a> for help with navigating inside the display and modifying the selection of displayed data tracks.</p>
|
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|
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</div>
|
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</h3>
|
||
<div id="sequence">
|
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|
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<div id="seq_div" class="usa-width-one-whole">
|
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<label for="seq_sel">Choose placement</label>
|
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<select id="seq_sel">
|
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<option value="option1"
|
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selected="selected"
|
||
data-svparams="id=NC_000007.14&assm_context=GCF_000001405.40&v=117559539.5:117559642.5&mk=117559591:117559594|rs113993960!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="113993960">
|
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|
||
GRCh38.p14 ( NC_000007.14 )
|
||
|
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</option>
|
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|
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<option value="option2"
|
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|
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data-svparams="id=NC_000007.13&assm_context=GCF_000001405.25&v=117199593.5:117199696.5&mk=117199645:117199648|rs113993960!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="113993960">
|
||
|
||
GRCh37.p13 ( NC_000007.13 )
|
||
|
||
</option>
|
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|
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<option value="option3"
|
||
|
||
data-svparams="id=NG_016465.4&assm_context=&v=98756.5:98859.5&mk=98808:98811|rs113993960!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="113993960">
|
||
|
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NG_016465.4
|
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|
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</option>
|
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|
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</select>
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<div class="align-right">
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<a href="#"
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|
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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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<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube"
|
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target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg"
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xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
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style="enable-background:new 0 0 249 249;" xml:space="preserve">
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<title>SM-Youtube</title>
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<style type="text/css">
|
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.st4 {
|
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fill: none;
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stroke: #FFFFFF;
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stroke-width: 8;
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stroke-miterlimit: 10;
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<g transform="translate(0,-952.36218)">
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d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
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v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
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</g>
|
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</svg></a></li>
|
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</ul>
|
||
</div>
|
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<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br>
|
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323"
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class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br>
|
||
Bethesda, MD 20894</a></p>
|
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</div>
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|
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office"
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class="text-white">FOIA</a><br>
|
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br>
|
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br>
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<div class="row">
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<nav class="bottom-links">
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<ul class="mt-3">
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<li>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white"
|
||
href="https://www.nih.gov/">NIH</a>
|
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</li>
|
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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</li>
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<li>
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class="text-white" href="https://www.usa.gov/">USA.gov</a>
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</div>
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</section>
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</footer>
|
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<!-- ========== END FOOTER ========== -->
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<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
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<script type="text/javascript">
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var nwds_version = "1.2.3";
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|
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var meta_nwds_ver = document.createElement('meta');
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var alertsUrl = "/core/alerts/alerts.js";
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if (typeof ncbiBaseUrl !== 'undefined') {
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alertsUrl = ncbiBaseUrl + alertsUrl;
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}
|
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</script>
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<!--<script type="text/javascript" src="/snp/static/snp2redesign/js/lib/jquery/jquery.min.js"></script>-->
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<script src="/snp/static/nwds/js/nwds.js" type="text/javascript"> </script>
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<div>Software version is: 2.0.1.post825+45319f0</div>
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</body>
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</html> |