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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
05/07/09 Lasky-Su J
December 05, 2008
Am J Med Genet B Neuropsychiatr Genet
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
Attention deficit hyperactivity disorder 930 European ancestry trios NA View full set of 19 SNPs Perlegen
[429,981]
N
12p11.22 Intergenic PTHLH - CCDC91 rs522958-? NR 1 x 10-6 (binary) NR
3p24.3 Intergenic ZNF385D rs11719664-? intron NR 2 x 10-6 (count) NR
14q23.2 Intergenic LINC00644 - ATP5A1P4 rs1514928-? NR 3 x 10-6 (binary) NR
2q21.2 FLJ34870 NCKAP5; LOC101928161 rs7577925-? intron;intron NR 3 x 10-6 (binary) NR
16q22.1 HAS3 RPS2P45 - HAS3 rs8047014-? NR 4 x 10-6 (binary) NR
13q32.3 CLYBL CLYBL; LOC101927437 rs7992643-? intron;intron NR 5 x 10-6 (count) NR
1q41 Intergenic TGFB2 - LYPLAL1 rs1018040-? NR 5 x 10-6 (binary) NR
22q12.3 Intergenic LARGE-AS1 - ISX rs130575-? NR 5 x 10-6 (binary) NR
2q24.1 Intergenic MTND5P30 - NR4A2 rs1918172-? NR 5 x 10-6 (count) NR
1p31.2 Intergenic TXNP2 - LRRC7 rs4147141-? NR 6 x 10-6 (count) NR
05/07/09 " Hyperactive-impulsive symptoms 930 European ancestry trios NA View full set of 14 SNPs Perlegen
[429,981]
N
12p11.22 Intergenic PTHLH - CCDC91 rs522958-? NR 8 x 10-7 (binary) NR
6p22.3 Intergenic MIR548A1 - TRNAQ22 rs41441749-? NR 1 x 10-6 (binary) NR
2p21 OXER1 MTA3 - OXER1 rs6719977-? NR 2 x 10-6 (binary) NR
8p21.3 LPL INTS10 - LPL rs7816032-? NR 2 x 10-6 (count) NR
1p13.2 Intergenic FAM19A3 - RPL39P8 rs11590090-? NR 3 x 10-6 (count) NR
15q14 MEIS2 MEIS2 rs8041675-? intron NR 4 x 10-6 (count) NR
21q21.3 GRIK1 GRIK1 rs363512-? intron NR 4 x 10-6 (binary) NR
3q26.1 Intergenic OTOL1 - TOMM22P6 rs6808138-? NR 5 x 10-6 (binary) NR
9p24.3 DMRT2 DMRT2 rs17641078-? missense NR 5 x 10-6 (binary) NR
19q13.43 LOC390980 ZNF805 rs2014572-? missense NR 7 x 10-6 (count) NR
05/07/09 " Inattentive symptoms 930 European ancestry trios NA View full set of 15 SNPs Perlegen
[429,981]
N
9q22.32 Intergenic PSMA7P - LINC00476 rs11790994-? NR 2 x 10-7 (binary) NR
8q21.11 Intergenic RDH10 - STAU2-AS1 rs12679254-? NR 2 x 10-6 (binary) NR
11q22.3 Intergenic AASDHPPT - GUCY1A2 rs10895959-? NR 3 x 10-6 (binary) NR
15q26.1 SLCO3A1 SLCO3A1 rs7495052-? intron NR 3 x 10-6 (binary) NR
16q12.1 ZNF423 ZNF423 rs17281813-? intron NR 3 x 10-6 (binary) NR
9q21.31 Intergenic KRT18P24 - CHCHD2P9 rs2769967-? NR 3 x 10-6 (count) NR
15q25.1 IL16 IL16 rs7172689-? intron NR 4 x 10-6 (count) NR
7q36.3 Intergenic DNAJB6 - PTPRN2 rs10227331-? NR 4 x 10-6 (count) NR
13q12.12 Intergenic SPATA13 rs17079773-? intron NR 5 x 10-6 (binary) NR
1p31.2 Intergenic TXNP2 - LRRC7 rs4650135-? NR 5 x 10-6 (binary) NR




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