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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
11/07/13 Chung CC
May 12, 2013
Nat Genet
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
Testicular germ cell tumor 582 European ancestry male cases, 1,056 European ancestry male controls 3,560 European ancestry male cases, 8,510 European ancestry male controls View full set of 11 SNPs Illumina
[NR]
N
12q21.32 KITLG KITLG rs995030-A UTR-3 NR 3 x 10-13 2.3256 [1.85-2.94]
17q22 C17orf47,TEX14, PPM1E, RAD51C, SEPT4, TRIM37, SKA2 LOC101927688 rs9905704-T intron 0.68 4 x 10-13 1.27 [1.18-1.33]
16q23.1 RFWD3, GLG1, MLKL RFWD3 rs4888262-C cds-synon 0.458 5 x 10-12 1.26 [1.18-1.34]
5q31.3 SPRY4 NDFIP1 - SPRY4 rs4624820-G NR 8 x 10-10 1.6393 [1.39-1.89]
7p22.3 MAD1L1 MAD1L1 rs12699477-C intron 0.38 6 x 10-9 1.21 [1.14-1.29]
4q22.3 HPGDS, SMARCAD1 HPGDS rs17021463-T intron 0.42 1 x 10-8 1.19 [1.12-1.26]
6p21.31 BAK1 BAK1 rs210138-G intron NR 3 x 10-7 1.62 [1.35-1.95]
9p24.3 DMRT1 DMRT1 rs755383-C intron NR 4 x 10-7 1.5152 [1.3-1.79]
16q12.1 HEATR3 RNY4P3 - RPL10P14 rs8046148-? NR 3 x 10-6 1.2 [1.11-1.30]
18q21.1 LIPG LIPG rs9951026-? intron NR 5 x 10-6 1.22 [1.12-1.33]




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