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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
06/26/13 Sherva R
March 24, 2013
Alzheimers Dement
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
Alzheimer's disease (cognitive decline) 303 European ancestry cases   17q23.2 BCAS3 BCAS3 rs72832584-? intron 0.05 1 x 10-11 .3 unit decrease Illumina
[NR] (Imputed)
N
03/15/13 Kottgen A
December 23, 2012
Nat Genet
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Urate levels 49,825 European ancestry males, 60,522 European ancestry females Up to 32,813 European ancestry individuals 17q23.2 BCAS3, C17orf82 BCAS3 rs2079742-T intron 0.85 1 x 10-8 .043 [0.027-0.059] mg/dl increase Affymetrix, Illumina, Perlegen
[2,450,547] (imputed)
N
04/09/13 Comuzzie AG
December 04, 2012
PLoS One
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Obesity-related traits 815 Hispanic children from 263 families NA 17q23.2 BCAS3 BCAS3 rs17513268-G intron 0.084 7 x 10-6 (Eotaxin ) .03 [NR] pg/mL increase Illumina
[899,892]
N
09/18/12 Okada Y
July 15, 2012
Nat Genet
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Renal function-related traits (BUN) 39,717 East Asian ancestry individuals 17,461 East Asian ancestry individuals 17q23.2 BCAS3 BCAS3 rs11868441-G intron 0.75 2 x 10-9 .0059 [0.0039-0.0079] mg/dl increase Affymetrix & Illumina
[2,281,523] (imputed)
N
09/18/12 " Renal function-related traits (eGRFcrea) 42,451 East Asian, South Asian, and South East Asian ancestry individuals 19,636 East Asian ancestry individuals 17q23.2 BCAS3 BCAS3 rs9895661-C intron 0.52 5 x 10-11 .0051 [0.0035-0.0067] ml/min/1.73m2 decrease Affymetrix & Illumina
[2,353,587] (imputed)
N
09/18/12 " Renal function-related traits (sCR) 42,257 East Asian, South Asian, and South East Asian ancestry individuals 19,662 East Asian ancestry individuals 17q23.2 BCAS3 BCAS3 rs9895661-C intron 0.52 7 x 10-11 .0045 [0.0031-0.0059] mg/dl increase Affymetrix & Illumina
[2,353,587] (imputed)
N
08/07/12 Kennedy RB
May 19, 2012
Hum Genet
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
Immune reponse to smallpox (secreted IL-2) Up to 512 European ancestry individuals, up to 199 African American individuals NA 17q23.2 BCAS3 BCAS3 rs7224438-G intron 4 x 10-7 (AA) NR Illumina
[NR]
N
07/12/10 Ramdas WD
June 10, 2010
PLoS Genet
A genome-wide association study of optic disc parameters.
Vertical cup-disc ratio 7,360 European ancestry individuals 4,455 European ancestry individuals 17q23.2 BCAS3 BCAS3 rs8068952-G intron 0.23 3 x 10-8 .01 [0.008-0.016] mm2 decrease Affymetrix and Illumina
[~2.5 million] (imputed)
N
05/05/10 Kottgen A
April 11, 2010
Nat Genet
New loci associated with kidney function and chronic kidney disease.
Chronic kidney disease Up to 67,093 European ancestry individuals Up to 22,982 European ancestry individuals 17q23.2 BCAS3,TBX2,C17orf82 BCAS3 rs9895661-C intron 0.19 1 x 10-15 (eGFRcrea) .01 [0.007-0.015] ml/min/1.73 m2 decrease Affymetrix & Illumina
[~2.5 million] (imputed)
N
11/25/08 Gudbjartsson DF
April 06, 2008
Nat Genet
Many sequence variants affecting diversity of adult human height.
Height 30,968 European ancestry individuals 8,541 European ancestry individuals 17q23.2 BCAS3, NACA2, TBX2, TBX4 C17orf82 - TBX4 rs757608-T 0.35 6 x 10-8 4.4 [2.83-5.97] % s.d. taller Illumina and Affymetrix
[up to 304,226]
N




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