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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. 


 

Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

 

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 listed here 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. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

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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 11q24.3 ETS1 MIR6090 - FLI1 rs73013527-C 0.56 1 x 10-10 1.09 [1.06-1.12] Affymetrix & Illumina
[up to 9,739,303] (Imputed)
N
11q24.3 ETS1 MIR6090 - FLI1 rs73013527-C 0.5 1 x 10-6 (EA) 1.08 [1.05-1.11]
11q24.3 ETS1 MIR6090 - FLI1 rs73013527-C 0.72 4 x 10-6 (East Asian) 1.14 [1.08-1.21]
01/09/14 Hinds DA
June 30, 2013
Nat Genet
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
Self-reported allergy 53,862 European ancestry individuals NA 11q24.3 ETS1 KIRREL3-AS3 - ETS1 rs10893845-T 0.5074 6 x 10-7 .059 [0.036-0.082] unit decrease Illumina
[2.4 million] (Imputed)
N
02/21/13 Yang W
December 27, 2012
Am J Hum Genet
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
Systemic lupus erythematosus 1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls 3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls 11q24.3 ETS1 KIRREL3-AS3 - ETS1 rs6590330-A 0.35 3 x 10-8 1.51 Illumina
[2,100,739] (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 11q24.3 ETS1 ETS1 rs7117932-A intron 0.287 8 x 10-6 (MCP1 ) .03 [NR] pg/mL increase Illumina
[899,892]
N
04/27/12 Okada Y
March 25, 2012
Nat Genet
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
Rheumatoid arthritis 4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls 5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls 11q24.3 ETS1, FLI1 MIR6090 - FLI1 rs4937362-T 0.68 8 x 10-7 1.09 [1.06-1.13] Affymetrix & Illumina
[1,948,139]
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 11q24.3 ETS1 ETS1 rs11221332-A intron 0.24 5 x 10-16 1.21 [1.16-1.27] Illumina
[292,387]
N
03/06/10 Yang W
February 12, 2010
PLoS Genet
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.
Systemic lupus erythematosus 314 Chinese ancestry cases, 1,484 Chinese ancestry controls 2,630 Chinese ancestry cases, 2,155 Chinese ancestry controls, 314 Thai ancestry cases, 519 Thai ancestry controls 11q24.3 ETS1 ETS1 rs1128334-A UTR-3 0.35 2 x 10-11 1.29 [1.20-1.39] Illumina
[514,221]
N
11/09/09 Han JW
October 18, 2009
Nat Genet
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
Systemic lupus erythematosus 1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls 3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls 11q24.3 ETS1 KIRREL3-AS3 - ETS1 rs6590330-A 0.34 2 x 10-25 1.37 [1.29-1.45) Illumina
[493,955]
N




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