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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
11/02/12 EPICURE Consortium
September 04, 2012
Hum Mol Genet
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
Epilepsy (generalized) 702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls 347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls 2p16.1 Intergenic LOC101927235 rs13026414-C intron .576 2 x 10-9 (All GGE) 1.23 [1.15-1.32] Affymetrix
[4.56 million] (imputed)
N
17q21.32 PNPO, ATAD4, CDK5RAP3, COPZ2, hsa-mir-152, NFE2L1, CBX1, SNX11, SKAP1 LOC102724556 rs72823592-G nearGene-3 0.753 9 x 10-9 (All GGE) 1.3 [1.20-1.41]
2q22.3 ZEB2 ZEB2-AS1 - TEX41 rs10496964-C 0.844 9 x 10-9 (GAE) 1.47 [1.28-1.67]
1q43 CHRM3 CHRM3 rs12059546-G intron .172 4 x 10-8 (JME) 1.42 [1.26-1.61]
5q12.3 MAST4 MAST4 rs39861-C intron .235 3 x 10-7 (JME) 1.26 [1.13-1.41]
2p16.1 Intergenic EIF2S2P7 - VRK2 rs2717068-T 0.412 4 x 10-7 (GAE) 1.27 [1.16-1.40]
1p34.3 C1orf94 C1orf94 - MIR552 rs771390-C 0.757 6 x 10-7 (All GGE) 1.22 [1.12-1.32]
4q31.23 Intergenic ATP5LP4 - DCLK2 rs10030601-C 0.035 1 x 10-6 (GAE) 1.58 [1.29-1.93]
2q24.3 SCN1A SCN1A; LOC101929680 rs11890028-T intron;intron 0.688 4 x 10-6 (All GGE) 1.18 [1.09-1.27]
1q31.1 PLA2G4A PLA2G4A rs12720541-T intron 0.264 9 x 10-6 (GAE) 1.21 [1.10-1.35]




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