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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
12/21/12 Franceschini N
September 26, 2012
Am J Hum Genet
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
Serum albumin level Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals NA View full set of 16 SNPs Illumina and Affymetrix
[~2.5 million] (imputed)
N
2p23.3 GCKR-FNDC4 GCKR rs1260326-T missense 0.41 4 x 10-19 .0138 [0.011-0.017] unit increase
19q13.12 HPN, SCN1B HPN; HPN-AS1 rs4806073-C intron;intron 0.93 4 x 10-18 .0272 [0.021-0.033] unit increase
19q13.12 HPN, SCN1B HPN; HPN-AS1 rs4806073-C intron;intron 0.93 3 x 10-15 (EA) .0257 [0.019-0.032] unit increase
17p13.3 SERPINF2, WDR81 MIR22HG; WDR81; MIR22 rs11078597-C intron;nearGene-5;nearGene-5 0.18 1 x 10-14 .0204 [0.015-0.026] unit increase
2p23.3 GCKR, FNDC4 GCKR rs1260326-T missense 0.41 3 x 10-14 (EA) .0124 [0.0093-0.0155] unit increase
19q13.12 HPN, SCN1B HPN-AS1 rs11671010-? intron NR 2 x 10-13 (EA) NR
17p13.3 SERPINF2, WDR81 MIR22HG; WDR81; MIR22 rs11078597-C intron;nearGene-5;nearGene-5 0.18 7 x 10-13 (EA) .0205 [0.015-0.026] unit increase
18q21.33 TNFRSF11A, ZCCHC2 ACTBP9 - ZCCHC2 rs694419-T 0.52 4 x 10-9 .0095 [0.0064-0.0126] unit increase
19q13.33 RPS11, FCGRT RPS11; SNORD35B rs2280401-A intron;nearGene-5 0.17 6 x 10-9 .0134 [0.0089-0.0179] unit increase
18q21.33 TNFRSF11A, ZCCHC2 ACTBP9 - ZCCHC2 rs694419-T 0.52 1 x 10-8 (EA) .0093 [0.0062-0.0124] unit increase
12/21/12 " Serum total protein level Up to 25,539 European ancestry individuals, 10,168 Japanese ancestry individuals NA View full set of 12 SNPs Illumina and Affymetrix
[~2.5 million] (imputed)
N
17p11.2 TNFRSF13B TNFRSF13B rs4561508-T intron 0.11 2 x 10-18 .0401 [0.031-0.049] unit increase
17p11.2 TNFRSF13B TNFRSF13B rs4561508-T intron 0.37 2 x 10-11 (Japanese) .047 [-0.09020-0.18420] unit increase
6p21.32 Intergenic TRNAI25 rs204999-A 0.74 4 x 10-11 .0266 [0.019-0.034] unit increase
17p11.2 TNFRSF13B TNFRSF13B rs4561508-T intron 0.11 1 x 10-9 (EA) .036 [0.024-0.048] unit increase
6p21.32 Intergenic TRNAI25 rs204999-A 0.74 3 x 10-9 (EA) .025 [0.017-0.033] unit increase
5q15 ELL2 ELL2 rs3777200-T intron 0.27 1 x 10-8 .0204 [0.013-0.027] unit increase
2p23.3 GCKR, FNDC4 GCKR rs1260326-T missense 0.44 6 x 10-8 .0179 [0.011-0.024] unit increase
8q21.13 PAG1 PAG1 - UBE2HP1 rs10097731-T 0.15 6 x 10-8 .025 [0.016-0.034] unit increase
19q13.33 RPS11, FCGRT RPS11; SNORD35B rs2280401-A intron;nearGene-5 0.16 7 x 10-8 (Japanese) .05 [0.032-0.068] unit increase
10q21.2 ARID5B C10orf107 - ARID5B rs2675609-T 0.43 2 x 10-6 (Japanese) .036 [0.022-0.050] unit decrease




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