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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
07/29/14 Simino J
December 12, 2013
Front Genet
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
Diastolic blood pressure (alcohol consumption interaction) up to 6,882 European ancestry individuals NA 13q31.1 RNF219-AS1 RNF219-AS1 rs9318552-T intron 0.79 5 x 10-8 (Oz alcohol/week) .389 [0.25-0.53] unit increase Affymetrix
[2.5 million] (Imputed)
N
2p23.2 FAM179A FAM179A rs13008299-G intron 0.29 7 x 10-8 (drinks/week) .068 [0.033-0.103] unit decrease
18q22.3 FBXO15 MIR548AV - FBXO15 rs1943940-C 0.47 6 x 10-7 (drinks/week) .1 [0.053-0.147] unit increase
10q24.1 SLIT1 SLIT1 rs7902871-G intron 0.81 1 x 10-6 (drinks/week) .12 [0.075-0.165] unit decrease
07/29/14 " Mean arterial pressure (alcohol consumption interaction) up to 6,882 individuals NA 10q24.1 SLIT1 SLIT1 rs12773465-G intron 0.84 2 x 10-7 (drinks/week) .159 [0.098-0.220] unit decrease Affymetrix
[2.5 million] (Imputed)
N
3p24.3 KAT2B KAT2B rs9874923-T intron 0.43 4 x 10-7 (drinks/week) .104 [0.063-0.145] unit increase
1q42.13 RAB4A ISCA1P2 - RAB4A rs16849553-C 0.009 7 x 10-7 (Oz alcohol/week) 1.452 [0.95-1.95] unit increase
5p15.31 ADCY2 RNA5SP176 - ADCY2 rs4537030-G 0.38 7 x 10-7 (drinks/week) .087 [0.046-0.128] unit decrease
7p14.1 GLI3 HMGN2P30 - TCP1P1 rs7791745-T 0.8 7 x 10-7 (drinks/week) .196 [0.12-0.27] unit decrease
18q22.3 FBXO15 MIR548AV - FBXO15 rs1943940-C 0.47 8 x 10-7 (drinks/week) .106 [0.053-0.159] unit increase
1q41 ESRRG ESRRG rs17669622-A intron 0.25 9 x 10-7 (drinks/week) .094 [0.049-0.139] unit decrease
10q21.2 SLC16A9 MRPL50P4 - SLC16A9 rs10826334-G 0.92 9 x 10-7 (Oz alcohol/week) .529 [0.31-0.75] unit decrease
5p15.32 Intergenic KIAA0947 - HMGB3P3 rs3852160-C 0.39 2 x 10-6 (Days drinks/week) .526 [0.34-0.71] unit increase
07/29/14 " Pulse pressure (alcohol consumption interaction) up to 6,882 individuals NA 7p11.2 ZNF716 VN1R29P - NCOR1P3 rs11766519-C 0.13 1 x 10-7 (Days drinks/week) .102 [0.067-0.137] unit decrease Affymetrix
[2.5 million] (Imputed)
N
11p12 Intergenic RPL18P8 - LRRC4C rs12292796-C 0.07 3 x 10-7 (drinks/week) .003 [-0.00288-0.00888] unit decrease
2p21 CRIPT, SOCS5 CRIPT - SOCS5 rs4953404-G 0.72 8 x 10-7 (Days drinks/week) .006 [-0.01164-0.02364] unit increase
2p21 CRIPT, SOCS5 CRIPT - SOCS5 rs4953404-G 0.72 1 x 10-6 (Oz alcohol/week) .001 [-0.01076-0.01276] unit increase
07/29/14 " Systolic blood pressure (alcohol consumption interaction) up to 6,882 European ancestry individuals NA View full set of 11 SNPs Affymetrix
[2.5 million] (Imputed)
N
10q21.2 SLC16A9 MRPL50P4 - SLC16A9 rs10826334-G 0.91 1 x 10-8 (drinks/week) .238 [0.14-0.34] unit decrease
10q21.2 SLC16A9 MRPL50P4 - SLC16A9 rs10826334-G 0.92 4 x 10-8 (Oz alcohol/week) .864 [0.54-1.19] unit decrease
16q24.1 WFDC1 WFDC1 rs16963349-C intron 0.002 1 x 10-7 (drinks/week) 1.178 [0.67-1.68] unit increase
11p14.3 Intergenic RPS2P38 - LUZP2 rs7116456-T 0.003 1 x 10-7 (drinks/week) .929 [0.6-1.26] unit increase
12q21.33 KERA, LUM KERA - LUM rs4494364-A 0.14 2 x 10-7 (drinks/week) .142 [0.058-0.226] unit increase
12q21.33 KERA, LUM KERA - LUM rs991427-T 0.14 2 x 10-7 (Oz alcohol/week) .412 [0.14-0.68] unit increase
12p12.2 PDE3A PDE3A rs10841530-G intron 0.56 6 x 10-7 (drinks/week) .155 [0.098-0.212] unit increase
21q22.2 IGSF5 IGSF5 - PCP4 rs2410182-A 0.4 7 x 10-7 (Oz alcohol/week) .452 [0.27-0.63] unit decrease
1p31.1 MGC27382, PTGFR RNA5SP23 - PTGFR rs648425-T 0.02 8 x 10-7 (drinks/week) .317 [0.082-0.552] unit decrease
21q22.2 IGSF5, PCP4 IGSF5 - PCP4 rs2837253-A 0.3 8 x 10-7 (drinks/week) .182 [0.11-0.25] unit increase




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