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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
01/10/13 Amin Al Olama A
October 12, 2012
Hum Mol Genet
A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.
Prostate cancer 5,132 European ancestry non-aggressive cases, 5,953 European ancestry aggressive cases, 11,463 European ancestry controls 22,387 European ancestry non-aggressive cases, 2,008 European ancestry aggressive cases, up to 24,726 European ancestry controls 22q13.1 TNRC6B FAM83F - TNRC6B rs11704416-C NR 4 x 10-7 (All) 1.06 [1.02-1.10] Illumina
[~2.6 million] (imputed)
N
22q13.1 TNRC6B FAM83F - TNRC6B rs11704416-C NR 4 x 10-6 (Aggressive) 1.05 [0.96-1.15]
03/31/12 Tao S
January 04, 2012
Carcinogenesis
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
Prostate cancer (gene x gene interaction) 4,723 European ancestry cases, 4,792 European ancestry controls NA 22q13.1 TNRC6B TNRC6B rs12628051-? intron NR 3 x 10-6 (rs7127900) 1.3 [1.17-1.46] Affymetrix & Illumina
[1,117,531] (imputed)
N
22q13.1 TNRC6B TNRC6B rs4821941-? intron NR 4 x 10-6 (rs7127900) 1.3 [1.16-1.46]
05/02/11 Cha PC
April 03, 2011
Nat Genet
A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
Uterine fibroids 1,607 Japanese ancestry cases, 1,428 Japanese ancestry controls 3,439 Japanese ancestry cases, 3,244 Japanese ancestry controls 22q13.1 TNRC6B TNRC6B rs12484776-G intron 0.36 3 x 10-12 1.23 [1.11-1.37] Illumina
[457,044]
N
07/24/09 Estrada K
July 01, 2009
Hum Mol Genet
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
Height 10,074 European ancestry individuals 6,912 European ancestry individuals 22q13.1 TNRC6B, ADSL TNRC6B rs139909-T intron 0.68 2 x 10-7 .25 [0.03-0.47] cm increase Affymetrix, Illumina & Perlegen
[2,228,850] (imputed)
N
02/26/09 Sun J
January 01, 2009
Cancer Res
Sequence variants at 22q13 are associated with prostate cancer risk.
Prostate cancer 1,235 European ancestry aggressive cases, 1,599 European ancestry controls 1,215 European ancestry aggressive cases, 2,213 European ancestry non-aggressive cases, 1,208 European ancestry controls, 1,034 aggressive cases, 921 non-aggressive cases, 2,231 controls 22q13.1 TNRC6B TNRC6B rs9623117-C intron 0.21 5 x 10-7 1.18 [1.11-1.26] Affymetrix and Illumina
[~2 million] (imputed)
N




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