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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
08/14/12 Bergen SE
June 12, 2012
Mol Psychiatry
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
Bipolar disorder 836 European ancestry cases, 2,093 European ancestry controls NA 4q34.3 Intergenic RNA5SP173 - LINC00290 rs17746001-T NR 3 x 10-7 2.03 [NR] Affymetrix
[745,006]
N
12q23.3 CMKLR1 CMKLR1 - FICD rs17040430-T NR 9 x 10-7 1.89 [NR]
1q42.2 IRF2BP2 TARBP1 - IRF2BP2 rs271738-A NR 5 x 10-6 1.32 [NR]
8p22 DLC1 DLC1 rs289585-? intron NR 5 x 10-6 1.45 [NR]
08/14/12 " Bipolar disorder and schizophrenia 2,111 European ancestry schizophrenia cases, 836 European ancestry bipolar disorder cases, 2,535 European ancestry controls NA View full set of 13 SNPs Affymetrix
[745,006]
N
4q34.3 Intergenic RNA5SP173 - LINC00290 rs17746001-? NR 3 x 10-7 1.75 [NR]
4q34.3 Intergenic RNA5SP173 - LINC00290 rs17746001-T NR 3 x 10-7 1.75 [NR]
6p22.1 MHC, other genes TRNAI25 rs2524005-? NR 5 x 10-7 1.32 [NR]
9q22.31 SPTLC1, ROR2 SPTLC1 rs7872515-? intron NR 6 x 10-7 1.39 [NR]
6p21.33 MHC, other genes LINC00243 rs886424-? ncRNA;missense NR 9 x 10-7 1.37 [NR]
3q26.32 KCNMB2 KCNMB2 rs2054399-? intron NR 1 x 10-6 1.22 [NR]
16q13 NLRC5 NLRC5 rs821470-A intron NR 3 x 10-6 1.25 [NR]
8p23.1 MSRA MSRA rs1484642-C intron NR 3 x 10-6 1.43 [NR]
6p21.32 MHC, other genes HCG23 rs3117099-? nearGene-5 NR 3 x 10-6 1.25 [NR]
10q26.11 Intergenic PDZD8 - EMX2OS rs181500-T NR 5 x 10-6 1.24 [NR]
08/14/12 " Schizophrenia 2,111 European ancestry cases, 2,535 European ancestry controls 11,271 European ancestry cases, 14,601 European ancestry controls View full set of 15 SNPs Affymetrix
[745,006]
N
6p22.1 MHC TRNAI25 rs17693963-? NR 3 x 10-11 1.24 [NR]
10q24.33 NT5C2, CNNM2, other genes NT5C2 rs11191580-? intron NR 2 x 10-9 1.23 [NR]
7p22.3 MAD1L1, SNX8, NUDT1, FTSJ2 MAD1L1 rs12666575-? intron NR 2 x 10-9 1.12 [NR]
5q12.1 Intergenic ZSWIM6 rs7709645-? intron NR 4 x 10-8 1.11 [NR]
8q21.3 MMP16 RNA5SP272 - RIPK2 rs7004633-? NR 6 x 10-8 1.15 [NR]
2q37.2 CENTG2 AGAP1 rs13025591-? intron NR 8 x 10-8 1.11 [NR]
12p13.33 TCF4 CACNA1C rs17597926-? intron NR 1 x 10-7 1.36 [NR]
12p13.33 CACNA1C CACNA1C rs4765905-? intron NR 2 x 10-7 1.11 [NR]
11q25 Intergenic SNX19 - NTM rs10894294-? NR 3 x 10-7 1.1 [NR]
15q22.2 Intergenic RNA5SP397 - VPS13C rs12592967-? NR 3 x 10-7 1.1 [NR]




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