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<meta name="keywords" content="C1853096, finding, hdlcq6, high density lipoprotein cholesterol level qtl6, high density lipoprotein cholesterol level quantitative trait locus 6, scarb1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 (Concept Id: C1853096)
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<!--
|
||
UID=343969
|
||
ConceptID=C1853096
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6<span class="h1sub">(HDLCQ6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1853096</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>HDLCQ6</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SCARB1 - ID: 949 - NCBI Gene" href="/gene/949" class="medgenPMinfo">SCARB1</a> (12q24.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610762" target="_blank">610762</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853096[DISCUI]&test_type=Clinical" ref="ncbi_uid=343969">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343969" target="_blank" href="/omim/601040">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343969" ref="ncbi_uid=343969">V</a></span></span><span class="TLline">HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/44376" ref="tree=MeSH" title="MedGen record for Metabolic disease">Metabolic disease</a></span><ul><li><span class="matched_ds">HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16715837">Genotype-by-sex interaction in the regulation of high-density lipoprotein: the Framingham Heart Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mosher MJ,
|
||
Martin LJ,
|
||
Cupples LA,
|
||
Yang Q,
|
||
Dyer TD,
|
||
Williams JT,
|
||
North KE</span><br />
|
||
<span class="medgenPMjournal">Hum Biol</span>
|
||
2005 Dec;77(6):773-93.
|
||
doi: 10.1353/hub.2006.0017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16715837" target="_blank">16715837</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(high%20density%20lipoprotein%20cholesterol%20level%20quantitative%20trait%20locus%206)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39201500">Investigating Genetic Overlap between Alzheimer's Disease, Lipids, and Coronary Artery Disease: A Large-Scale Genome-Wide Cross Trait Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirby A,
|
||
Porter T,
|
||
Adewuyi EO,
|
||
Laws SM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Aug 13;25(16)
|
||
doi: 10.3390/ijms25168814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39201500" target="_blank">39201500</a><a href="/pmc/articles/PMC11354907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38568343">An overview of detecting gene-trait associations by integrating GWAS summary statistics and eQTLs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Wang M,
|
||
Li Z,
|
||
Yang X,
|
||
Li K,
|
||
Xie A,
|
||
Dong F,
|
||
Wang S,
|
||
Yan J,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Sci China Life Sci</span>
|
||
2024 Jun;67(6):1133-1154.
|
||
Epub 2024 Mar 29
|
||
doi: 10.1007/s11427-023-2522-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38568343" target="_blank">38568343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37929782">Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu C,
|
||
Bakshi A,
|
||
Watts GF,
|
||
Renton AE,
|
||
Fulton-Howard B,
|
||
Goate AM,
|
||
Natarajan P,
|
||
Chasman DI,
|
||
Robman L,
|
||
Woods RL,
|
||
Guymer R,
|
||
Wolfe R,
|
||
Thao LTP,
|
||
McNeil JJ,
|
||
Tonkin AM,
|
||
Nicholls SJ,
|
||
Lacaze P</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2023 Nov 7;12(21):e031459.
|
||
Epub 2023 Nov 6
|
||
doi: 10.1161/JAHA.123.031459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37929782" target="_blank">37929782</a><a href="/pmc/articles/PMC10727421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28334899">Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spracklen CN,
|
||
Chen P,
|
||
Kim YJ,
|
||
Wang X,
|
||
Cai H,
|
||
Li S,
|
||
Long J,
|
||
Wu Y,
|
||
Wang YX,
|
||
Takeuchi F,
|
||
Wu JY,
|
||
Jung KJ,
|
||
Hu C,
|
||
Akiyama K,
|
||
Zhang Y,
|
||
Moon S,
|
||
Johnson TA,
|
||
Li H,
|
||
Dorajoo R,
|
||
He M,
|
||
Cannon ME,
|
||
Roman TS,
|
||
Salfati E,
|
||
Lin KH,
|
||
Guo X,
|
||
Sheu WHH,
|
||
Absher D,
|
||
Adair LS,
|
||
Assimes TL,
|
||
Aung T,
|
||
Cai Q,
|
||
Chang LC,
|
||
Chen CH,
|
||
Chien LH,
|
||
Chuang LM,
|
||
Chuang SC,
|
||
Du S,
|
||
Fan Q,
|
||
Fann CSJ,
|
||
Feranil AB,
|
||
Friedlander Y,
|
||
Gordon-Larsen P,
|
||
Gu D,
|
||
Gui L,
|
||
Guo Z,
|
||
Heng CK,
|
||
Hixson J,
|
||
Hou X,
|
||
Hsiung CA,
|
||
Hu Y,
|
||
Hwang MY,
|
||
Hwu CM,
|
||
Isono M,
|
||
Juang JJ,
|
||
Khor CC,
|
||
Kim YK,
|
||
Koh WP,
|
||
Kubo M,
|
||
Lee IT,
|
||
Lee SJ,
|
||
Lee WJ,
|
||
Liang KW,
|
||
Lim B,
|
||
Lim SH,
|
||
Liu J,
|
||
Nabika T,
|
||
Pan WH,
|
||
Peng H,
|
||
Quertermous T,
|
||
Sabanayagam C,
|
||
Sandow K,
|
||
Shi J,
|
||
Sun L,
|
||
Tan PC,
|
||
Tan SP,
|
||
Taylor KD,
|
||
Teo YY,
|
||
Toh SA,
|
||
Tsunoda T,
|
||
van Dam RM,
|
||
Wang A,
|
||
Wang F,
|
||
Wang J,
|
||
Wei WB,
|
||
Xiang YB,
|
||
Yao J,
|
||
Yuan JM,
|
||
Zhang R,
|
||
Zhao W,
|
||
Chen YI,
|
||
Rich SS,
|
||
Rotter JI,
|
||
Wang TD,
|
||
Wu T,
|
||
Lin X,
|
||
Han BG,
|
||
Tanaka T,
|
||
Cho YS,
|
||
Katsuya T,
|
||
Jia W,
|
||
Jee SH,
|
||
Chen YT,
|
||
Kato N,
|
||
Jonas JB,
|
||
Cheng CY,
|
||
Shu XO,
|
||
He J,
|
||
Zheng W,
|
||
Wong TY,
|
||
Huang W,
|
||
Kim BJ,
|
||
Tai ES,
|
||
Mohlke KL,
|
||
Sim X</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2017 May 1;26(9):1770-1784.
|
||
doi: 10.1093/hmg/ddx062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28334899" target="_blank">28334899</a><a href="/pmc/articles/PMC6075203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22998429">Lipoprotein(a): resurrected by genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kronenberg F,
|
||
Utermann G</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2013 Jan;273(1):6-30.
|
||
Epub 2012 Nov 12
|
||
doi: 10.1111/j.1365-2796.2012.02592.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22998429" target="_blank">22998429</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22HIGH%20DENSITY%20LIPOPROTEIN%20CHOLESTEROL%20LEVEL%20QUANTITATIVE%20TRAIT%20LOCUS%206%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27447179">Protective role of the apolipoprotein E2 allele in age-related disease traits and survival: evidence from the Long Life Family Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kulminski AM,
|
||
Raghavachari N,
|
||
Arbeev KG,
|
||
Culminskaya I,
|
||
Arbeeva L,
|
||
Wu D,
|
||
Ukraintseva SV,
|
||
Christensen K,
|
||
Yashin AI</span><br />
|
||
<span class="medgenPMjournal">Biogerontology</span>
|
||
2016 Nov;17(5-6):893-905.
|
||
Epub 2016 Jul 22
|
||
doi: 10.1007/s10522-016-9659-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27447179" target="_blank">27447179</a><a href="/pmc/articles/PMC5065761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14975125">Localization of genes involved in the metabolic syndrome using multivariate linkage analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olswold C,
|
||
de Andrade M</span><br />
|
||
<span class="medgenPMjournal">BMC Genet</span>
|
||
2003 Dec 31;4 Suppl 1(Suppl 1):S57.
|
||
doi: 10.1186/1471-2156-4-S1-S57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14975125" target="_blank">14975125</a><a href="/pmc/articles/PMC1866494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22HIGH%20DENSITY%20LIPOPROTEIN%20CHOLESTEROL%20LEVEL%20QUANTITATIVE%20TRAIT%20LOCUS%206%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39201500">Investigating Genetic Overlap between Alzheimer's Disease, Lipids, and Coronary Artery Disease: A Large-Scale Genome-Wide Cross Trait Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirby A,
|
||
Porter T,
|
||
Adewuyi EO,
|
||
Laws SM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Aug 13;25(16)
|
||
doi: 10.3390/ijms25168814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39201500" target="_blank">39201500</a><a href="/pmc/articles/PMC11354907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38568343">An overview of detecting gene-trait associations by integrating GWAS summary statistics and eQTLs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Wang M,
|
||
Li Z,
|
||
Yang X,
|
||
Li K,
|
||
Xie A,
|
||
Dong F,
|
||
Wang S,
|
||
Yan J,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Sci China Life Sci</span>
|
||
2024 Jun;67(6):1133-1154.
|
||
Epub 2024 Mar 29
|
||
doi: 10.1007/s11427-023-2522-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38568343" target="_blank">38568343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36826505">Altered blood gene expression in the obesity-related type 2 diabetes cluster may be causally involved in lipid metabolism: a Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Klerk JA,
|
||
Beulens JWJ,
|
||
Mei H,
|
||
Bijkerk R,
|
||
van Zonneveld AJ,
|
||
Koivula RW,
|
||
Elders PJM,
|
||
't Hart LM,
|
||
Slieker RC</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2023 Jun;66(6):1057-1070.
|
||
Epub 2023 Feb 24
|
||
doi: 10.1007/s00125-023-05886-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36826505" target="_blank">36826505</a><a href="/pmc/articles/PMC10163084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23824655">The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fall T,
|
||
Hägg S,
|
||
Mägi R,
|
||
Ploner A,
|
||
Fischer K,
|
||
Horikoshi M,
|
||
Sarin AP,
|
||
Thorleifsson G,
|
||
Ladenvall C,
|
||
Kals M,
|
||
Kuningas M,
|
||
Draisma HH,
|
||
Ried JS,
|
||
van Zuydam NR,
|
||
Huikari V,
|
||
Mangino M,
|
||
Sonestedt E,
|
||
Benyamin B,
|
||
Nelson CP,
|
||
Rivera NV,
|
||
Kristiansson K,
|
||
Shen HY,
|
||
Havulinna AS,
|
||
Dehghan A,
|
||
Donnelly LA,
|
||
Kaakinen M,
|
||
Nuotio ML,
|
||
Robertson N,
|
||
de Bruijn RF,
|
||
Ikram MA,
|
||
Amin N,
|
||
Balmforth AJ,
|
||
Braund PS,
|
||
Doney AS,
|
||
Döring A,
|
||
Elliott P,
|
||
Esko T,
|
||
Franco OH,
|
||
Gretarsdottir S,
|
||
Hartikainen AL,
|
||
Heikkilä K,
|
||
Herzig KH,
|
||
Holm H,
|
||
Hottenga JJ,
|
||
Hyppönen E,
|
||
Illig T,
|
||
Isaacs A,
|
||
Isomaa B,
|
||
Karssen LC,
|
||
Kettunen J,
|
||
Koenig W,
|
||
Kuulasmaa K,
|
||
Laatikainen T,
|
||
Laitinen J,
|
||
Lindgren C,
|
||
Lyssenko V,
|
||
Läärä E,
|
||
Rayner NW,
|
||
Männistö S,
|
||
Pouta A,
|
||
Rathmann W,
|
||
Rivadeneira F,
|
||
Ruokonen A,
|
||
Savolainen MJ,
|
||
Sijbrands EJ,
|
||
Small KS,
|
||
Smit JH,
|
||
Steinthorsdottir V,
|
||
Syvänen AC,
|
||
Taanila A,
|
||
Tobin MD,
|
||
Uitterlinden AG,
|
||
Willems SM,
|
||
Willemsen G,
|
||
Witteman J,
|
||
Perola M,
|
||
Evans A,
|
||
Ferrières J,
|
||
Virtamo J,
|
||
Kee F,
|
||
Tregouet DA,
|
||
Arveiler D,
|
||
Amouyel P,
|
||
Ferrario MM,
|
||
Brambilla P,
|
||
Hall AS,
|
||
Heath AC,
|
||
Madden PA,
|
||
Martin NG,
|
||
Montgomery GW,
|
||
Whitfield JB,
|
||
Jula A,
|
||
Knekt P,
|
||
Oostra B,
|
||
van Duijn CM,
|
||
Penninx BW,
|
||
Smith GD,
|
||
Kaprio J,
|
||
Samani NJ,
|
||
Gieger C,
|
||
Peters A,
|
||
Wichmann HE,
|
||
Boomsma DI,
|
||
de Geus EJ,
|
||
Tuomi T,
|
||
Power C,
|
||
Hammond CJ,
|
||
Spector TD,
|
||
Lind L,
|
||
Orho-Melander M,
|
||
Palmer CN,
|
||
Morris AD,
|
||
Groop L,
|
||
Järvelin MR,
|
||
Salomaa V,
|
||
Vartiainen E,
|
||
Hofman A,
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Ripatti S,
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Metspalu A,
|
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Thorsteinsdottir U,
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Stefansson K,
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Pedersen NL,
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McCarthy MI,
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Ingelsson E,
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Prokopenko I;
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European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium</span><br />
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2013;10(6):e1001474.
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Epub 2013 Jun 25
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|
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<div class="nl"><a target="_blank" href="/pubmed/22998429">Lipoprotein(a): resurrected by genetics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kronenberg F,
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<div class="nl"><a target="_blank" href="/pubmed/37929782">Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yu C,
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<div class="nl"><a target="_blank" href="/pubmed/14739155">Genome-wide scan identifies novel QTLs for cholesterol and LDL levels in F2[Dahl RxS]-intercross rats.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Austin MA,
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Edwards KL,
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Monks SA,
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Koprowicz KM,
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Brunzell JD,
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Motulsky AG,
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Mahaney MC,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22HIGH%20DENSITY%20LIPOPROTEIN%20CHOLESTEROL%20LEVEL%20QUANTITATIVE%20TRAIT%20LOCUS%206%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39201500">Investigating Genetic Overlap between Alzheimer's Disease, Lipids, and Coronary Artery Disease: A Large-Scale Genome-Wide Cross Trait Analysis.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/39201500" target="_blank">39201500</a><a href="/pmc/articles/PMC11354907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38110883">Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/38110883" target="_blank">38110883</a><a href="/pmc/articles/PMC10729411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37929782">Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yu C,
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Bakshi A,
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Watts GF,
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Renton AE,
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Fulton-Howard B,
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Goate AM,
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Natarajan P,
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Chasman DI,
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Robman L,
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Woods RL,
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Guymer R,
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Wolfe R,
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Thao LTP,
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McNeil JJ,
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Tonkin AM,
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Nicholls SJ,
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Lacaze P</span><br />
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<span class="medgenPMjournal">J Am Heart Assoc</span>
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2023 Nov 7;12(21):e031459.
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Epub 2023 Nov 6
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doi: 10.1161/JAHA.123.031459.
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<span class="bold">PMID: </span><a href="/pubmed/37929782" target="_blank">37929782</a><a href="/pmc/articles/PMC10727421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26637976">Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/26637976" target="_blank">26637976</a><a href="/pmc/articles/PMC4678431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23824655">The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.</a></div>
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Hofman A,
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Ripatti S,
|
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Metspalu A,
|
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Thorsteinsdottir U,
|
||
Stefansson K,
|
||
Pedersen NL,
|
||
McCarthy MI,
|
||
Ingelsson E,
|
||
Prokopenko I;
|
||
European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium</span><br />
|
||
<span class="medgenPMjournal">PLoS Med</span>
|
||
2013;10(6):e1001474.
|
||
Epub 2013 Jun 25
|
||
doi: 10.1371/journal.pmed.1001474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23824655" target="_blank">23824655</a><a href="/pmc/articles/PMC3692470" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22HIGH%20DENSITY%20LIPOPROTEIN%20CHOLESTEROL%20LEVEL%20QUANTITATIVE%20TRAIT%20LOCUS%206%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853096%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
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<li><a href="/gtr/tests?term=C1853096%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853096%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(high%20density%20lipoprotein%20cholesterol%20level%20quantitative%20trait%20locus%206)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ccf2e084f3725e598774c7">HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ccf2deb15b832ebc48d4bc">C1864445[trait identifier] AND "Revvity Omics, Revvity"[submitter... <span class="number">(1)</span></a>
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<div class="ralinkpop offscreen_noflow">C1864445[trait identifier] AND "Revvity Omics, Revvity"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ccf2dca68b6b5afcc28bf5">C4310720[trait identifier] AND "Revvity Omics, Revvity"[submitter... <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ccf2dbf4a390645e9216ca">C1849157[trait identifier] AND "Revvity Omics, Revvity"[submitter... <span class="number">(13)</span></a>
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<div class="ralinkpop offscreen_noflow">C1849157[trait identifier] AND "Revvity Omics, Revvity"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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