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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
06/01/11 Ramsuran V
May 01, 2011
Clin Infect Dis
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
Neutrophil count 115 African ancestry HIV-negative individuals NA View full set of 20 SNPs Illumina
[874,956]
N
1q23.2 DARC ACKR1 rs2814778-? UTR-5 NR 1 x 10-8 NR
2p25.1 KIDINS220 KIDINS220 rs7587928-? intron NR 2 x 10-7 NR
3q22.1 CPNE4 MIR5704 - TRNAC14 rs6775745-? NR 2 x 10-7 NR
11q22.3 PDGFD MTND1P36 - MIR4693 rs1917445-? NR 6 x 10-7 NR
21q22.2 DSCAM DSCAM rs2837828-? intron NR 1 x 10-6 NR
8p23.1 NEIL2 NEIL2 rs6601606-? intron NR 1 x 10-6 NR
8q21.13 RP11-48B3.1, RPSAP47 ZBTB10 - RPSAP47 rs272594-? NR 1 x 10-6 NR
1p32.1 FGGY FGGY rs12727131-? intron NR 3 x 10-6 NR
6q24.2 AL161904.1, RP11-440G9.1 GPR126 - HIVEP2 rs9496398-? NR 4 x 10-6 NR
8p22 PSD3 PSD3 rs4921617-? intron NR 4 x 10-6 NR
06/01/11 " Platelet counts 115 African ancestry HIV-negative individuals NA 16p12.2 AC130454.2, AC130454.1 CHP2 rs4968031-? nearGene-5 NR 1 x 10-6 NR Illumina
[874,956]
N
12q24.31 ABCB9 OGFOD2 rs7296418-? nearGene-5 NR 2 x 10-6 NR
5q35.3 AC008620.2 TRNAL43P - TRNAV3 rs1279750-? NR 2 x 10-6 NR
12q24.31 PITPNM2 PITPNM2 rs1727307-? intron NR 3 x 10-6 NR
1q43 CHRM3 CHRM3 rs6677208-? intron NR 3 x 10-6 NR
1p34.2 NFYC MIR30C1 - KCNQ4 rs4660456-? NR 4 x 10-6 NR
7p14.2 EEPD1 EEPD1 rs4302748-? nearGene-5 NR 5 x 10-6 NR
18q21.31 AC105105.1 NEDD4L - MIR122 rs8099014-? NR 6 x 10-6 NR
12q24.13 AC007425.1 MIR1302-1 - RPH3A rs3803064-? NR 7 x 10-6 NR
1p21.3 DPYD DPYD rs11165846-? intron NR 9 x 10-6 NR




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