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]
10/06/14 Xie T
January 17, 2014
Neurobiol Aging
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
Amyotrophic lateral sclerosis (sporadic) 250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls NA 20p12.1 MACROD2 MACROD2 rs7267421-? intron 8 x 10-6 NR Illumina
[859,311] (pooled)
08/07/13 Wade TD
April 09, 2013
Int J Eat Disord
Genetic variants associated with disordered eating.
Eating disorders 543 European ancestry female cases, 1,116 European ancestry female controls NA 20p12.1 MACROD2 MACROD2 rs11087123-A intron 0.738 4 x 10-6 .12 [0.069-0.171] unit decrease Illumina
[6,150,213] (Imputed)
06/18/13 Jahanshad N
March 05, 2013
Proc Natl Acad Sci U S A
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
Brain connectivity 331 European ancestry individuals   20p12.1 MACROD2 ENSAP1 - PPIAP17 rs16997087-? NR 1 x 10-10 (Strength - R paracentral) NR Illumina
20p12.1 MACROD2 ENSAP1 - PPIAP17 rs16997087-? NR 2 x 10-9 (Efficiency - R-paracentral) NR
05/26/13 Kamboh MI
February 24, 2013
Autoimmune Dis
Genome-wide association study of antiphospholipid antibodies.
Presence of antiphospholipid antibodies 183 European ancestry ACL-positive cases, 487 European ancestry ACL-negative controls, 127 European ancestry LAC-positive cases, 581 European ancestry LAC-negative controls, 136 European ancestry Anti-B2GPI-positive cases, 360 European ancestry Anti-B2GPI-negative controls NA 20p12.1 MACROD2 MACROD2 rs6080100-? intron 0.2655 7 x 10-6 (anti-B2 GPI) 2.086 [NR] Affymetrix
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 20p12.1 MACROD2 MACROD2 rs199307-G intron 0.241 8 x 10-6 (IGF1 free ) .03 [NR] ng/mL increase Illumina
06/16/11 Slavin TP
May 28, 2011
Hum Genet
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
Hypertension ~2,000 European ancestry cases, ~3,000 European ancestry controls NA 20p12.1[rs200752]; 20p12.1[rs200759] MACROD2 - 2-SNP haplotype-9 (TA) 7 x 10-9 NR Affymetrix
09/24/10 Chalasani N
August 10, 2010
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
Non-alcoholic fatty liver disease histology (other) 236 European ancestry cases NA 20p12.1 MACROD2 MACROD2 rs6079395-A intron 0.49 7 x 10-6 (Fibrosis) .92 [NR] unit increase Illumina
09/10/10 Anney R
July 27, 2010
Hum Mol Genet
A genome-wide scan for common alleles affecting risk for autism.
Autism 1,385 child cases from 1,369 families 1,086 child cases from 595 families, 1,965 European, African American and other ancestry controls 20p12.1 MACROD2 MACROD2 rs4141463-? intron 0.57 4 x 10-8 (Str) 1.37 [1.22-1.52] Illumina

Top of page

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