Skip to main content

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 Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to

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:





Notice: The updated Catalog content may now be searched at

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]
[SNPs passing QC]
07/05/13 Kitamoto T
March 28, 2013
Hum Genet
Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
Non-alcoholic fatty liver disease 392 Japanese ancestry cases, 934 Japanese ancestry controls 172 Japanese ancestry cases, 1,012 Japanese ancestry controls 22q13.31 PNPLA3, SAMM50, PARVB PNPLA3 rs2896019-G intron 0.45 2 x 10-20 2.02 [1.60-2.56] Illumina
08/10/12 Kawaguchi T
June 14, 2012
PLoS One
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
Nonalcoholic fatty liver disease 529 Japanese ancestry cases, 932 Japanese ancestry controls NA 22q13.31 PNPLA3 PNPLA3 rs738409-G missense 0.484 1 x 10-10 1.66 [1.43-1.94] Illumina
11/18/11 Chambers JC
October 16, 2011
Nat Genet
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Liver enzyme levels (alanine transaminase) Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals NA 22q13.31 PNPLA3, SAMM50 PNPLA3 rs738409-G missense 0.23 1 x 10-45 6 [5.0-7.0] % increase Affymetrix, Illumina, and Perlegen
[~2.6 million] (imputed)
10/11/11 Kim YJ
September 11, 2011
Nat Genet
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Metabolite levels 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals 22q13.31 PNPLA3 PNPLA3 rs12483959-A intron 0.42 2 x 10-39 (ALT) .001 [0.00080-0.00120] IU/L increase Affymetrix
[~2.2 million] (imputed)
22q13.31 PNPLA3 PNPLA3 rs12483959-A intron 0.42 2 x 10-18 (ALT) .0039 [0.0031-0.0047] IU/L decrease
04/11/11 Speliotes EK
March 10, 2011
PLoS Genet
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
Nonalcoholic fatty liver disease 880 Amish individuals, 6,296 European ancestry individuals 592 European ancestry cases, 1,405 European ancestry controls 22q13.31 PNPLA3 PNPLA3 rs738409-G missense 0.23 4 x 10-34 .26 [0.22-0.30] unit increase (GOLD) Affymetrix & Illumina
[~2.4 million] (imputed)
11/05/13 Kamatani Y
February 07, 2010
Nat Genet
Genome-wide association study of hematological and biochemical traits in a Japanese population.
Hematological and biochemical traits Up to 14,402 Japanese individuals NA 22q13.31 PNPLA3,SAMM50,PARVB PNPLA3 rs2896019-G intron 0.45 2 x 10-12 (ALT) .085 [0.061-0.109] unit increase Illumina
22q13.31 PNPLA3,SAMM50,PARVB PNPLA3 rs2896019-G intron 0.45 2 x 10-12 (AST) .085 [0.061-0.109] unit decrease
12/01/08 Yuan X
October 10, 2008
Am J Hum Genet
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
Liver enzyme levels 7,751 European ancestry individuals 1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals 22q13.31 PNPLA3, SAMM50 PNPLA3 rs2281135-T intron 0.18 8 x 10-16 (ALT) .06 [0.046-0.074] U/L increase Affymetrix and Illumina
[up to 496,032]

Top of page

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