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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
12/10/13 Luciano M
June 05, 2013
Genes Brain Behav
A genome-wide association study for reading and language abilities in two population cohorts.
Non-word repetition 6,649 European ancestry children and adolescents NA 21q11.2 ABCC13 ABCC13 - HSPA13 rs2192161-A 0.06 7 x 10-8 .198 [0.13-0.27] unit increase Illumina
[~2.4 million] (Imputed)
N
16q23.3 Intergenic MPHOSPH6 - CDH13 rs7187223-A 0.96 1 x 10-7 .251 [0.16-0.34] unit increase
7p21.1 Intergenic LOC101927668 rs6954796-C intron 0.13 2 x 10-6 .124 [0.073-0.175] unit increase
13q12.3 ALOX5AP ALOX5AP rs3922435-? intron NR 7 x 10-6 NR
13q12.3 UBL3 UBL3 rs2892463-? intron NR 8 x 10-6 NR
12/10/13 " Reading and spelling 6,649 European ancestry children and adolescents NA 19p13.3 DAZAP1 DAZAP1 rs4807927-A intron 0.94 1 x 10-6 .207 [0.12-0.29] unit increase Illumina
[~2.4 million] (Imputed)
N
10p15.2 BC037918 PITRM1-AS1 - KLF6 rs17135159-A 0.80 2 x 10-6 .107 [0.062-0.152] unit increase
3q26.1 Intergenic OTOL1 - TOMM22P6 rs12493123-? NR 2 x 10-6 NR
10q21.2 CDC2 CDK1 rs3213056-A intron 0.03 3 x 10-6 .376 [0.22-0.53] unit decrease
9p23 Intergenic AKAP8P1 - JKAMPP1 rs12351590-? NR 3 x 10-6 NR
6p24.1 Intergenic TMEM170B - ADTRP rs479526-T 0.55 3 x 10-6 .093 [0.054-0.132]
7p21.3 Intergenic RBMX2P4 - RPL26P21 rs13307587-A 0.67 5 x 10-6 .088 [0.051-0.125] unit decrease
14q23.1 PRKCH PRKCH rs17098356-? intron NR 6 x 10-6 NR
13q33.3 FAM155A FAM155A rs9520462-? intron NR 7 x 10-6 NR
7q31.33 GPR37 RPS2P31 - GPR37 rs7802263-? NR 8 x 10-6 NR
12/10/13 " Word reading 6,649 European ancestry children and adolescents View full set of 15 SNPs Illumina
[~2.4 million] (Imputed)
N
16q22.3 Intergenic LOC101927998 rs764255-T intron 0.66 2 x 10-7 .077 [0.048-0.106] unit decrease
1p13.1 Intergenic MAB21L3 - ATP1A1 rs4839516-A 0.31 4 x 10-7 .079 [0.05-0.108] unit increase
14q23.1 PRKCH PRKCH rs11158345-T intron 0.82 3 x 10-6 .084 [0.049-0.119] unit increase
13q21.33 Intergenic ATXN8OS - MTCL1P1 rs1928007-A 0.91 5 x 10-6 .108 [0.061-0.155] unit decrease
4p15.33 Intergenic RNA5SP156 - HSP90AB2P rs11945798-T 0.96 5 x 10-6 .175 [0.1-0.25] unit decrease
14q31.1 Intergenic ENSAP2 - RNU7-51P rs12050412-T 0.80 5 x 10-6 .077 [0.044-0.11] unit increase
1q23.3 NOS1AP NOS1AP rs11577628-A intron 0.92 5 x 10-6 .123 [0.07-0.176] unit decrease
9p23 Intergenic AKAP8P1 - JKAMPP1 rs12351590-? NR 5 x 10-6 NR
7p21.3 Intergenic RBMX2P4 - RPL26P21 rs1357978-A 0.30 6 x 10-6 .07 [0.039-0.101] unit increase
19p13.3 DAZAP1 DAZAP1 rs4807927-A intron 0.94 6 x 10-6 .147 [0.084-0.21] unit increase




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