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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
06/13/13 Mero IL
March 05, 2013
PLoS One
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.
Multiple sclerosis (OCB status) 1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases 3,029 European ancestry OCB positive cases, 374 European ancestry OCB negative cases 6p21.32 HLA-DRA HLA-DRA rs3129871-? nearGene-5 NR 6 x 10-15 1.72 [1.59-1.86] Illumina
[495,970]
N
6p21.32 BTNL2 BTNL2 rs3817963-? intron NR 6 x 10-10 1.61 [1.38-1.87]
3q23 CLSTN2 CLSTN2 rs17411949-? intron NR 8 x 10-7 1.85 [1.45-2.37]
06/13/13 " Multiple sclerosis (OCB status) 1,367 European ancestry OCB positive cases, 161 European ancestry OCB negative cases, 428 European ancestry controls NA 6p21.32 HLA-DQA1 TRNAI25 rs9271640-? NR 2 x 10-20 (OCB positive vs. controls) 2.37 [1.97-2.84] Illumina
[495,970]
N
6p21.32 HLA-DRA HLA-DRA rs3129871-? nearGene-5 NR 1 x 10-16 (OCB positive vs. controls) 1.98 [1.68-2.32]
6p21.32 HLA-DRB1 HLA-DRB6 rs3828840-? intron;intron NR 5 x 10-15 (OCB positive vs. controls) 1.94 [1.64-2.29]
6p21.32 HLA-DQB1 TRNAI25 rs3129720-? NR 5 x 10-15 (OCB positive vs. controls) 1.91 [1.62-2.24]
6p21.32 HLA-DQA2 TRNAI25 rs9275563-? NR 6 x 10-11 (OCB positive vs. controls) 1.75 [1.47-2.04]
2q31.2 PRKRA PRKRA; LOC101927027 rs9283487-? UTR-3;intron NR 3 x 10-7 (OCB positive vs. controls) 1.61 [1.33-1.92]
1q23.2 C10ORF204 C1orf204 rs6659742-? intron NR 7 x 10-7 (OCB negative vs. controls) 1.99 [1.52-2.61]
6p21.32 BTNL2 BTNL2 rs3817963-? intron NR 8 x 10-6 (OCB positive vs. controls) 1.52 [1.27-1.79]




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