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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
08/05/14 Okada Y
December 25, 2013
Nature
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Rheumatoid arthritis up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls 4q27 IL2, IL21 IL2 - IL21 rs45475795-G 0.07 4 x 10-6 (EA) 1.14 [1.08-1.20] Affymetrix & Illumina
[up to 9,739,303] (Imputed)
N
01/08/14 Bonnelykke K
June 30, 2013
Nat Genet
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
Allergic sensitization 5,789 European ancestry cases, 10,056 European ancestry controls 6,114 European ancestry cases, 9,920 European ancestry controls 4q27 IL2, ADAD1, KIAA1109, IL21 ADAD1 - IL2 rs17454584-G 0.26 6 x 10-10 1.15 [1.1-1.2] Affymetrix & Illumina
[~2.5 million] (Imputed)
N
02/12/13 Jostins L
November 01, 2012
Nature
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Inflammatory bowel disease 12,924 European ancestry cases, 21,442 European ancestry controls 25,683 European ancestry cases, 17,015 European ancestry controls 4q27 IL2,IL21 KIAA1109 rs7657746-A intron 0.753 3 x 10-13 1.116 [1.08-1.154] Affymetrix & Illumina
[1.23 million](imputed)
N
12/01/11 Ramasamy A
November 01, 2011
J Allergy Clin Immunol
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
IgE grass sensitization 2,315 European ancestry cases, 10,032 European ancestry controls NA 4q27 IL2 IL2 rs2069772-C intron 0.30 1 x 10-6 1.19 [1.11-1.28] Affymetrix & Illumina
[2,217,510] (imputed)
N
09/21/11 Plagnol V
August 04, 2011
PLoS Genet
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Type 1 diabetes autoantibodies 12,501 European ancestry cases 3,598 sibling cases 4q27 IL2 IL2 rs2069762-A nearGene-5 NR 5 x 10-7 (T1D) 1.12 [NR] Affymetrix and Illumina
[NR]
N
07/14/11 Hoglinger GU
June 19, 2011
Nat Genet
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Progressive supranuclear palsy 1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls 1,051 European ancestry cases, 3,560 European ancestry controls 4q27 IL2, IL21 IL2 - IL21 rs6852535-? 0.34 1 x 10-7 1.23 [1.13-1.32] Illumina
[531,451]
N
03/29/11 Anderson CA
February 06, 2011
Nat Genet
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Ulcerative colitis 6,687 European ancestry cases, 19,718 European ancestry controls 9,628 European ancestry cases, 12,917 European ancestry controls 4q27 IL21, IL2, ADAD1 ADAD1 rs17388568-A intron 0.27 9 x 10-7 1.12 [1.07-1.17] Affymetrix & Illumina
[~1.1 million] (imputed)
N
08/12/10 Petukhova L
July 01, 2010
Nature
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
Alopecia areata Up to 1,054 European ancestry cases, 3,278 European ancestry controls NA 4q27 IL2,IL21 IL2 - IL21 rs7682241-A 0.33 4 x 10-8 1.34 [1.21-1.48] Illumina
[463,301]
N
06/13/10 Stahl EA
May 09, 2010
Nat Genet
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
Rheumatoid arthritis 5,539 European ancestry cases, 20,169 European ancestry controls 6,768 European ancestry cases, 8,806 European ancestry controls 4q27 IL2,IL21 KIAA1109 rs13119723-A intron 0.15 7 x 10-7 1.12 [NR] Affymetrix & Illumina
[~2,716,259] (imputed)
N
03/29/10 Dubois PC
February 28, 2010
Nat Genet
Multiple common variants for celiac disease influencing immune gene expression.
Celiac disease 4,533 European ancestry cases, 10,750 European ancestry controls 4,918 European ancestry cases, 5,684 European ancestry controls 4q27 IL2, IL21 KIAA1109 rs13151961-? intron 0.86 2 x 10-27 1.35 [1.28-1.43] Illumina
[292,387]
N
06/01/09 Barrett JC
May 10, 2009
Nat Genet
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Type 1 diabetes 7,514 cases, 9,045 controls 4,267 cases, 4,670 controls, 4,342 trios from 2,319 families 4q27 IL2 KIAA1109 rs4505848-? intron NR 5 x 10-13 NR Affymetrix & Illumina
[841,622] (imputed)
N
11/25/08 Hunt KA
March 02, 2008
Nat Genet
Newly identified genetic risk variants for celiac disease related to the immune response.
Celiac disease 767 European ancestry cases, 1,422 European ancestry controls 1,643 European ancestry cases, 3,406 European ancestry controls 4q27 KIAA1109, ADAD1, IL2, IL21 IL2 - IL21 rs6822844-C 0.81 3 x 10-13 1.44 [1.30-1.58] Illumina
[310,605]
N
11/25/08 van Heel DA
June 10, 2007
Nat Genet
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
Celiac disease 778 European ancestry cases, 1,422 European ancestry controls 991 European ancestry cases, 1,489 European ancestry controls 4q27 KIAA1109,TENR,IL2,IL21 IL2 - IL21 rs6822844-G 0.82 1 x 10-14 1.59 [1.41-1.75] Illumina
[310,605]
N




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