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NIH

Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


Update (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. 


The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

 
An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
 

The genome-wide association study (GWAS) publications in the Catalog include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

 

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
Platform
[SNPs passing QC]
CNV
12/03/13 Coram MA
May 29, 2013
Am J Hum Genet
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
HDL cholesterol 7,917 African American individuals, 3,506 Hispanic individuals 7,138 African American individuals 16q13 CETP HERPUD1 - CETP rs247617-A 0.262 1 x 10-44 (AA) .0619 [NR] unit increase Affymetrix
[NR]
N
16q13 CETP HERPUD1 - CETP rs247617-C 0.298 3 x 10-16 (Hispanic) .0509 [NR] unit increase
NA APOA, APOC NA SNP11-116799496-C .0016 1 x 10-12 (AA) .409 [NR] unit increase
11q23.3 APOA,APOC ZPR1 rs964184-G intron 0.248 3 x 10-12 (Hispanic) .0459 [NR] unit decrease
7q21.11 CD36 CD36 - SEMA3C rs2366858-C 0.173 6 x 10-10 (AA) .0325 [NR] unit increase
19p13.2 LOC55908 DOCK6 rs12979813-T intron 0.495 2 x 10-9 (AA) .0235 [NR] unit decrease
8p23.1 PPP1R3B LOC157273 rs1461729-T intron 0.116 7 x 10-9 (AA) .0355 [NR] unit decrease
8p21.3 LPL LPL rs326-T intron 0.469 1 x 10-8 (AA) .0221 [NR] unit increase
21q22.11 Intergenic KRTAP20-3 - KRTAP21-3 rs13046373-C 0.391 4 x 10-6 (AA) .0226 [NR] unit decrease
11/29/13 " LDL cholesterol 7,861 African American individuals, 3,425 Hispanic individuals 7,138 African American individuals 19q13.32 APOE TOMM40 rs1160985-C intron 0.365 2 x 10-21 (AA) 6.772 [NR] unit increase Affymetrix
[NR]
N
1p32.3 PCSK9 USP24 rs17111684-A intron 0.12 2 x 10-17 (AA) 9.01 [NR] unit decrease
19p13.2 LDLR LDLR rs17249141-T nearGene-5 0.0126 2 x 10-17 (AA) 32.93 [NR] unit decrease
2p21 ABCG8 ABCG8 rs4245791-G intron 0.143 1 x 10-9 (AA) 5.97 [NR] unit increase
2p24.1 APOB APOB rs12713956-G intron 0.183 4 x 10-8 (AA) 4.86 [NR] unit decrease
11/29/13 " Triglycerides 7,601 African American individuals, 3,335 Hispanic individuals 7,138 African American individuals 11q23.3 APOA, APOC ZPR1 rs964184-G intron 0.248 4 x 10-33 (Hispanic) .1567 [NR] unit increase Affymetrix
[NR]
N
19q13.32 APOC1 APOC1 rs12721054-G UTR-3 0.1137 3 x 10-19 (AA) .101 [NR] unit decrease
11q23.3 APOA,APOC ZPR1 rs6589566-C intron 0.0176 5 x 10-14 (AA) .2066 [NR] unit increase
2p23.3 GCKR GCKR rs780094-C intron 0.358 7 x 10-9 (Hispanic) .0688 [NR] unit increase
8p21.3 LPL LPL - RPL30P9 rs17410962-G 0.112 7 x 10-9 (Hispanic) .1064 [NR] unit decrease
2p23.3 GCKR SNX17 rs4665972-T intron 0.123 1 x 10-8 (AA) .065 [NR] unit increase
8p21.3 LPL LPL rs326-T intron 0.469 1 x 10-8 (AA) .041 [NR] unit decrease




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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015