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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
01/21/15 Song F
June 30, 2014
Carcinogenesis
Identification of a melanoma susceptibility locus and somatic mutation in TET2.
Melanoma 494 European ancestry cases, 5,628 European ancestry controls 5,383 European ancestry cases, 13,033 European ancestry controls 11q14.3[rs1847134]; 11q14.3[rs1126809] TYR - rs1847134-? 6 x 10-8 1.25 [1.15-1.35] Illumina & Affymetrix
[1,579,307] (imputed)
N
08/10/13 Zhang M
April 01, 2013
Hum Mol Genet
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Sunburns 9,283 European ancestry individuals 4,236 European ancestry individuals 11q14.3 TYR TYR rs1126809-G missense NR 2 x 10-8 .6 [0.38-0.82] unit increase Illumina & Affymetrix
[7,588,169] (Imputed)
N
08/10/13 " Tanning 9,678 European ancestry individuals   11q14.3 TYR TYR rs1126809-G missense NR 5 x 10-21 .12 [0.10-0.14] unit decrease Illumina & Affymetrix
[7,588,169] (Imputed)
N
04/19/13 Holliday EG
January 11, 2013
PLoS One
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Age-related macular degeneration 3,772 European ancestry cases, 16,033 European ancestry controls 264 Asian ancestry cases, 3,926 Asian ancestry controls 11q14.3 TYR TYR rs621313-? intron 0.49 4 x 10-6 (EA) 1.15 [1.09-1.2] Illumina & Affymetrix
[~2.5 million] Imputed
N
11q14.3 TYR RNU6-16P - TYR rs10830228-A 0.42 9 x 10-6 1.12 [1.06-1.18]
07/11/12 Jin Y
May 06, 2012
Nat Genet
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
Vitiligo 418 European ancestry cases, 2,810 European ancestry controls 1,377 European ancestry cases, 1,284 European ancestry controls 11q21 TYR SESN3 - FGFR3P2 rs4409785-C 0.19 2 x 10-13 1.34 [NR] Illumina
[495,821]
N
12/10/11 Barrett JH
October 09, 2011
Nat Genet
Genome-wide association study identifies three new melanoma susceptibility loci.
Melanoma 2,804 European ancestry cases, 7,618 European ancestry controls 5,551 European ancestry cases, 7,449 European ancestry controls 11q14.3 TYR TYR rs1393350-A intron 0.28 2 x 10-13 1.3 [1.21-1.39] Illumina
[594,997]
N
07/16/10 Eriksson N
June 24, 2010
PLoS Genet
Web-based, participant-driven studies yield novel genetic associations for common traits.
Eye color 9,126 European ancestry individuals NA 11q14.3 TYR TYR rs1847134-A intron 0.68 1 x 10-15 (green eyes) 1.58 [NR] Illumina
[535,076]
N
11q14.3 TYR TYR rs1393350-A intron 0.27 3 x 10-9 (eye color) .28 [NR] unit decrease
05/18/10 Jin Y
April 21, 2010
N Engl J Med
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
Vitiligo 1,392 European ancestry cases, 2,629 European ancestry controls 647 European ancestry cases, 1,056 European ancestry controls, 183 European ancestry trios, 1,383 European ancestry individuals from 332 families 11q14.3 TYR TYR rs1393350-G intron 0.733 2 x 10-18 1.53 [1.39-1.68] Illumina
[520,460]
N
07/16/09 Bishop DT
July 05, 2009
Nat Genet
Genome-wide association study identifies three loci associated with melanoma risk.
Melanoma 1,539 European ancestry cases, 3,917 European ancestry controls 2,312 European ancestry cases, 1,867 European ancestry controls 11q14.3 TYR TYR rs1393350-A intron 0.27 2 x 10-14 1.29 [1.21-1.38] Illumina
[~317,000]
N
04/13/09 Nan H
April 02, 2009
J Invest Dermatol
Genome-wide association study of tanning phenotype in a population of European ancestry.
Tanning 2,287 European ancestry female individuals 870 European ancestry female individuals 11q14.3 TYR TYR rs1393350-A intron NR 2 x 10-13 .19 [0.13-0.25] increase in tanning ability score Illumina
[528,173]
N
11/25/08 Sulem P
October 21, 2007
Nat Genet
Genetic determinants of hair, eye and skin pigmentation in Europeans.
Blue vs. green eyes 2,986 individuals 3,932 individuals 11q14.3 TYR TYR rs1393350-A intron 0.23 3 x 10-12 1.52 [1.28-1.81] Illumina
[317,511]
N
11/25/08 " Freckles 2,986 individuals 3,932 individuals 11q14.3 TYR TYR rs1042602-C missense 0.67 2 x 10-11 1.32 [1.17-1.49] Illumina
[317,511]
N
02/16/09 " Skin sensitivity to sun 2,986 individuals 3,932 individuals 11q14.3 TYR TYR rs1393350-A intron 0.27 2 x 10-6 1.26 [1.11-1.43] Illumina
[317,511]
N
11/25/08 Stokowski RP
October 15, 2007
Am J Hum Genet
A genomewide association study of skin pigmentation in a South Asian population.
Skin pigmentation 363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals 116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals 11q14.3 TYR TYR rs1042602-C missense 0.84 4 x 10-10 4.36 [2.64-7.20] Perlegen
[1,502,205] (pooled)
N




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