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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
03/27/14 Chung S
September 11, 2013
Breast Cancer Res
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) 64 Japanese ancestry cases, 27 Japanese ancestry controls NA 9q33.3 DENND1A PIGFP2 - LHX2 rs10818894-G 0.70 2 x 10-6 (Dominant) 10.4 [3.56-30.1] Illumina
[555,600]
N
10/30/13 Melen E
April 01, 2013
Clin Exp Allergy
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
Body mass index (non-asthmatics) 5,184 European ancestry children 7,861 European ancestry adult individuals, 331 European and other ancestry adult individuals, 192 adult individuals, 186 children 841 European ancestry children, 421 Hispanic children, 381 children 9q33.3 DENND1A DENND1A rs10818854-A intron 0.04 2 x 10-7 (Children) NR Illumina
[536,451]
N
01/16/13 Meng W
October 09, 2012
Invest Ophthalmol Vis Sci
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
Myopia (pathological) 187 European ancestry cases, 1064 European ancestry controls   9q33.3 DENND1A DENND1A rs872863-? intron 0.082 2 x 10-11 NR Affymetrix & Illumina
[152,234]
N
01/16/11 Chen ZJ
December 12, 2010
Nat Genet
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
Polycystic ovary syndrome 744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls 3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls 9q33.3 DENND1A DENND1A rs2479106-G intron 0.22 8 x 10-19 1.34 [1.26-1.43] Affymetrix
[611,633]
N
9q33.3 DENND1A DENND1A rs10818854-A intron 0.09 9 x 10-18 1.51 [1.37-1.65]
09/14/10 Verweij KJ
August 04, 2010
Biol Psychol
A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.
Personality dimensions 5,117 European ancestry individuals from 2567 families NA 9q33.3 DENND1A DENND1A rs7852296-A intron 0.09 9 x 10-6 (Persistence) .17 [NR] unit decrease Affymetrix & Illumina
[1,252,387] (imputed)
N




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