Skip to main content
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
01/13/15 Chang SW
June 18, 2014
PLoS One
A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.
Chronic hepatitis B infection 321 Chinese ancestry cases, 304 Chinese ancestry controls 1,302 Chinese ancestry cases, 761 Chinese ancestry controls 6p21.32 HLA-DPB1 HLA-DPB1 rs9277535-G UTR-3 0.251 5 x 10-14 1.59 [1.41-1.79] Illumina
[456,262]
N
04/04/14 Li Y
October 06, 2013
Nat Genet
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
Sjögren's syndrome 542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls 1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls 6p21.32 HLA-DPB1, COL11A2 TRNAI25 rs4282438-G 0.3546 9 x 10-25 1.58 [1.45-1.72] Affymetrix
[556,134]
N
12/10/13 Xie G
September 01, 2013
Arthritis Rheum
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
Wegener's granulomatosis 459 European ancestry cases, 1,503 European ancestry controls 291 European ancestry cases, 317 European ancestry controls 6p21.32 HLA-DPB1, HLA-DPB2, HSD17B8, RING1, COL11A2, RXRB, HLA-DOA, HLA-DPB1*04 HLA-DPB1 rs9277554-C UTR-3 0.708 2 x 10-50 4.17 [3.33-5.00] Illumina
[287,802]
N
02/08/13 Park BL
November 21, 2012
Hum Genet
Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.
Aspirin exacerbated respiratory disease in asthmatics 117 Korean ancestry cases, 685 Korean ancestry controls 142 Korean ancestry cases, 996 Korean ancestry controls 6p21.32 HLA-DPB1 HLA-DPA1; HLA-DPB1 rs1042151-G nearGene-5;missense 0.083 5 x 10-7 2.4 [1.68-3.42] Illumina
[430,486]
N
08/10/12 Nishida N
June 21, 2012
PLoS One
Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.
Hepatitis B (viral clearance) 181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, and up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals 6p21.32 HLA-DPB1 HLA-DPB1 rs9277535-G UTR-3 0.57 2 x 10-21 (Protective effects against CHB) 1.64 [1.47-1.82] Affymetrix
[597,789]
N
6p21.32 HLA-DPB1 HLA-DPB1 rs9277535-G UTR-3 0.57 2 x 10-17 (Clearance of HBV) 1.52 [1.37-1.67]
08/06/11 Png E
July 15, 2011
Hum Mol Genet
A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.
Hepatitis B vaccine response 1,683 Indonesian ancestry individuals 1,931 Indonesian ancestry individuals 6p21.32 HLA-DPB1 HLA-DPB1 rs9277535-? UTR-3 NR 3 x 10-12 1.39 [1.23-1.59] Illumina
[455,508]
N
08/12/11 Gorlova O
July 14, 2011
PLoS Genet
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Systemic sclerosis 2,296 European ancestry cases, 5,172 European ancestry controls 3,175 European ancestry cases, 4,210 European ancestry controls 6p21.32 HLA-DPA1, HLA-DPB1 HLA-DPA1; HLA-DPB1 rs987870-? intron;nearGene-5 0.15 2 x 10-20 (ATA positive) 2.09 [1.78-2.45] Illumina
[NR] (imputed)
N
08/05/11 Mbarek H
July 12, 2011
Hum Mol Genet
A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.
Hepatitis B 458 Japanese ancestry cases, 2,056 Japanese ancestry controls 2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls 6p21.32 HLA-DPB1 HLA-DPB1 rs9277535-G UTR-3 0.57 3 x 10-54 1.77 [1.65-1.91] Illumina
[423,627]
N
04/12/11 Gharavi AG
March 13, 2011
Nat Genet
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
Nephropathy 1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls 712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls 6p21.32 HLA-DPA1, HLA-DPB1, HLA-DPB2 TRNAI25 rs1883414-? 0.67 (EA) 5 x 10-9 1.28 [NR] Illumina
[498,322]
N
04/16/09 Kamatani Y
April 06, 2009
Nat Genet
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.
Hepatitis B 179 Japanese ancestry cases, 934 Japanese ancestry controls 1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls 6p21.32 HLA-DPB1 HLA-DPB1 rs9277535-G UTR-3 6 x 10-39 1.75 [1.61-1.92] Illumina
[499,544]
N




Top of page

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