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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
05/19/09 Levy D
May 10, 2009
Nat Genet
Genome-wide association study of blood pressure and hypertension.
Diastolic blood pressure 29,136 European ancestry individuals 34,433 European ancestry individuals 12q24.12 SH2B3 SH2B3 rs3184504-T missense 0.48 3 x 10-14 .48 [0.36-0.60] mm Hg increase Affymetrix & Illumina
[2,533,153](imputed)
N
15q24.1 CSK, ULK3 CPLX3 - ULK3 rs6495122-A 0.42 2 x 10-10 .4 [0.28-0.52] mm Hg increase
12q21.33 ATP2B1 ATP2B1 rs2681472-A intron 0.83 1 x 10-9 .5 [0.34-0.66] mm Hg increase
3p22.1 ULK4 ULK4 rs9815354-A intron 0.17 3 x 10-9 .49 [0.33-0.65] mm Hg increase
10p12.31 CACNB2 CACNB2 rs11014166-A intron 0.66 1 x 10-8 .37 [0.25-0.49] mm Hg increase
12q24.21 TBX3, TBX5 TBX3 - UBA52P7 rs2384550-A 0.35 4 x 10-8 .35 [0.23-0.47] mm Hg decrease
11p15.1 PLEKHA7 PLEKHA7 rs11024074-T intron 0.72 1 x 10-6 .33 [0.19-0.47] mm Hg decrease
05/19/09 " Hypertension 29,136 European ancestry individuals 34,433 European ancestry individuals 12q21.33 ATP2B1 ATP2B1 rs2681472-A intron 0.83 2 x 10-11 .15 [0.11-0.19] increase in log odds Affymetrix & Illumina
[2,533,153](imputed)
N
10p12.31 CACNB2 CACNB2 rs11014166-A intron 0.66 6 x 10-8 .09 [0.05-0.13] increase in log odds
20q13.32 ZNF831, EDN3 ZNF831 rs16982520-A intron 0.88 2 x 10-7 .13 [0.09-0.17] decrease in log odds
8p23.1 MSRA MSRA rs11775334-A intron 0.32 4 x 10-6 .08 [0.04-0.12] increase in log odds
05/19/09 " Systolic blood pressure 29,136 European ancestry individuals 34,433 European ancestry individuals 12q21.33 ATP2B1 ATP2B1 rs2681492-T intron 0.80 4 x 10-11 .85 [0.60-1.10] mm Hg increase Affymetrix & Illumina
[2,533,153](imputed)
N
10q24.32 CYP17A1 CYP17A1; LOC102724307 rs1004467-A intron;nearGene-3 0.90 1 x 10-10 1.05 [0.74-1.36] mm Hg increase
11p15.1 PLEKHA7 PLEKHA7 rs381815-T intron 0.26 2 x 10-9 .65 [0.43-0.87] mm Hg increase
12q24.12 SH2B3 SH2B3 rs3184504-T missense 0.48 5 x 10-9 .58 [0.38-0.78] mm Hg increase
3q26.2 MDS1 MECOM rs448378-A intron 0.52 1 x 10-7 .51 [0.31-0.71] mm Hg decrease
10p12.31 CACNB2 CACNB2 rs11014166-A intron 0.66 7 x 10-7 .5 [0.30-0.70] mm Hg increase
1p36.22 CASZ1 CASZ1 rs12046278-T intron 0.64 5 x 10-6 .53 [0.29-0.77] mm Hg decrease




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