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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
03/13/14 McGue M
August 14, 2013
Behav Genet
A genome-wide association study of behavioral disinhibition.
Alcohol consumption 7,188 European ancestry individuals NA 2q37.1 NR TRPM8 rs12472151-A intron 0.048 2 x 10-6 8 [NR] unit increase Illumina
[527,829]
N
2p12 NR REG3A - CTNNA2 rs2100290-G 0.49 2 x 10-6 3.443 [NR] unit decrease
03/13/14 " Alcohol dependence 7,188 European ancestry individuals NA 1p36.11 NR CLIC4 - RUNX3 rs3131513-G 0.401 2 x 10-6 .353 [NR] unit decrease Illumina
[527,829]
N
8p23.1 NEIL2 NEIL2 rs804292-G UTR-3 0.234 2 x 10-6 .414 [NR] unit decrease
4q32.2 Intergenic FSTL5 - MTHFD2P4 rs4440177-A 0.338 6 x 10-6 .347 [NR] unit increase
11q25 OPCML OPCML rs1793257-A intron 0.037 7 x 10-6 .83 [NR] unit increase
03/13/14 " Behavioural disinhibition (generation interaction) 3,852 European ancestry parents, 3,336 European ancestry offspring NA View full set of 20 SNPs Illumina
[527,829]
N
2p16.3 NR NRXN1 rs11681792-A intron 0.179 4 x 10-7 (Non-substance related behavioral disinhibition) NR
16p13.2 NR C16orf72 rs3743832-A intron 0.39 9 x 10-7 (Non-substance related behavioral disinhibition) NR
4q31.21 NR ZNF827 rs1027841-A intron 0.162 2 x 10-6 (Non-substance related behavioral disinhibition) NR
12q21.31 SLC6A15 RPL6P25 - SLC6A15 rs4761097-G 0.449 2 x 10-6 (Alcohol dependence) NR
12p12.3 NR RERG-AS1 - METTL8P1 rs12311304-G 0.328 4 x 10-6 (Alcohol dependence) NR
14q32.31 NR HSP90AA1 rs1190596-A intron 0.18 4 x 10-6 (Nicotine use) NR
12p13.33 NR CACNA2D4; LRTM2 rs2887631-G intron;intron 0.275 4 x 10-6 (Illicit drug use) NR
3p24.1 NR EOMES - CMC1 rs9310862-G 0.496 4 x 10-6 (Illicit drug use) NR
6q16.1 Intergenic CYCSP17 - MANEA-AS1 rs2380220-A 0.159 4 x 10-6 (Alcohol dependence) NR
5q33.2 GALNT10 SAP30L-AS1 rs10037670-G intron 0.208 4 x 10-6 (Illicit drug use) NR
03/13/14 " Illicit drug use 7,188 European ancestry individuals NA 3q27.3 CRYGS DGKG - CRYGS rs1868152-A 0.124 5 x 10-8 15.679 [NR] unit increase Illumina
[527,829]
N
12q24.33 NR TMEM132D rs7979367-C intron 0.402 2 x 10-6 9.215 [NR] unit decrease
6q16.2 NR FAXC rs17059400-C intron 0.065 2 x 10-6 18.365 [NR] unit increase
1q43 WDR64 WDR64 rs10926554-A intron 0.126 3 x 10-6 13.13 [NR] unit decrease
4p15.31 NR KRT18P63 - RPL21P46 rs1503874-A 0.372 4 x 10-6 8.981 [NR] unit decrease
1q21.2 NR MRPS21 rs12403795-A intron 0.142 5 x 10-6 12.28 [NR] unit decrease
1p13.2 NR SYT6 rs529989-C intron 0.443 6 x 10-6 8.56 [NR] unit decrease
8p23.2 CSMD1 CSMD1 rs13259289-G intron 0.399 6 x 10-6 8.675 [NR] unit decrease
3p22.2 NR ITGA9; ITGA9-AS1 rs11129773-A intron;intron 0.061 8 x 10-6 17.899 [NR] unit increase
17q25.3 SEPT9 SEPT9 rs4788985-G intron 0.492 9 x 10-6 8.347 [NR] unit increase
03/13/14 " Nicotine use 7,188 European ancestry individuals NA 10q21.1 NR ZWINT - MIR3924 rs1907926-G 0.110 2 x 10-7 9.793 [NR] unit increase Illumina
[527,829]
N
8q24.13 NR ZHX2 rs6470120-A intron 0.331 7 x 10-7 6.251 [NR] unit decrease
7q36.2 NR ACTR3B - DPP6 rs4285401-A 0.447 2 x 10-6 5.599 [NR] unit increase
8p23.1 NEIL2 NEIL2 rs804292-G UTR-3 0.234 3 x 10-6 6.529 [NR] unit decrease
1p32.3 GLIS1 DMRTB1 - GLIS1 rs1298637-A 0.261 5 x 10-6 5.972 [NR] unit increase
2q37.1 SP140L SP140L rs6712333-A intron 0.119 5 x 10-6 8.322 [NR] unit increase
03/13/14 " Non-substance related behavioral disinhibition 7,188 European ancestry individuals NA 1p32.3 GLIS1 MROH7; MROH7-TTC4 rs1368882-A nearGene-5;nearGene-5 0.379 2 x 10-6 1.752 [NR] unit increase Illumina
[527,829]
N
16p13.2 NR C16orf72 rs3743832-A intron 0.39 4 x 10-6 1.724 [NR] unit decrease
7p14.1 NR SUGCT - INHBA rs4724055-C 0.03 8 x 10-6 4.917 [NR] unit increase
3p22.3 NR PDCD6IP - FECHP1 rs7620363-A 0.35 9 x 10-6 1.662 [NR] unit decrease




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