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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
07/23/14 Dichgans M
November 21, 2013
Stroke
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Coronary artery disease 33,398 cases, 75,726 controls NA View full set of 23 SNPs Illumina
[575,000] (imputed)
N
9p21.3 CDKN2BAS UBA52P6 - DMRTA1 rs1333049-C NR 3 x 10-56 1.24 [1.21-1.28]
6p24.1 PHACTR1 PHACTR1 rs9369640-C intron NR 3 x 10-11 1.0989 [1.08-1.14]
19p13.2 LDLR, SMARCA4 SMARCA4 rs1122608-T intron NR 3 x 10-11 1.1364 [1.09-1.18]
21q22.11 KCNE2 LINC00310 - KCNE2 rs9982601-T NR 3 x 10-10 1.18 [1.12-1.24]
7q32.2 ZC3HC1 ZC3HC1 rs11556924-T missense NR 3 x 10-10 1.0989 [1.06-1.12]
6q23.2 TCF21 TCF21 rs12190287-G UTR-3 NR 2 x 10-9 1.1111 [1.08-1.15]
1p32.2 PPAP2B PPAP2B rs17114036-G intron NR 1 x 10-8 1.1494 [1.1-1.22]
1p13.3 SORT1 CELSR2 - PSRC1 rs602633-T NR 1 x 10-8 1.1111 [1.08-1.15]
2q33.2 WDR12 WDR12 rs6725887-C intron NR 2 x 10-8 1.14 [1.10-1.19]
15q25.1 ADAMTS7 ADAMTS7 - TRNAK6 rs7173743-C NR 7 x 10-8 1.0753 [1.05-1.11]
07/23/14 " Coronary artery disease or ischemic stroke 12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls NA View full set of 15 SNPs Affymetrix & Illumina
[up to 2.5 million] (imputed)
N
9p21.3 CDKN2BAS UBA52P6 - DMRTA1 rs1333049-? 1 x 10-56 NR
12q24.12 SH2B3 ATXN2 - BRAP rs11065987-? 4 x 10-14 NR
6q26 SLC22A3, LPAL2, LPA LPA rs10455872-? intron 2 x 10-12 NR
19p13.2 LDLR, SMARCA4 SMARCA4 rs1122608-? intron 3 x 10-12 NR
6p24.1 PHACTR1 PHACTR1 rs4714955-? intron 4 x 10-11 NR
7q32.2 ZC3HC1 ZC3HC1 rs11556924-? missense 9 x 10-10 NR
9q34.2 ABO ABO - SURF6 rs579459-? 2 x 10-9 NR
15q25.1 ADAMTS7 DNM1P37 rs2219939-? 2 x 10-9 NR
2q33.2 WDR12 WDR12 rs7582720-? intron 4 x 10-9 NR
1p13.3 SORT1 PSRC1 rs599839-? nearGene-3 1 x 10-8 NR
07/23/14 " Coronary artery disease or large artery stroke 2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls NA View full set of 17 SNPs Affymetrix & Illumina
[up to 2.5 million] (imputed)
N
9p21.3 CDKN2BAS UBA52P6 - DMRTA1 rs1333049-? 1 x 10-59 NR
1p13.3 SORT1 PSRC1 rs599839-? nearGene-3 8 x 10-17 NR
6q26 SLC22A3, LPAL2, LPA LPA rs10455872-? intron 9 x 10-14 NR
7p21.1 HDAC9 TWIST1 rs2107595-? intron 3 x 10-12 NR
19p13.2 LDLR, SMARCA4 SMARCA4 rs1122608-? intron 2 x 10-11 NR
6p24.1 PHACTR1 PHACTR1 rs4714955-? intron 2 x 10-11 NR
17p11.2 RAI1, PEMT, RASD1 EEF1A1P43 - RAI1 rs12936587-? 2 x 10-10 NR
12q24.12 SH2B3 ATXN2 - BRAP rs11065987-? 3 x 10-10 NR
7q32.2 ZC3HC1 ZC3HC1 rs11556924-? missense 8 x 10-10 NR
11q23.3 ZNF259 ZPR1 rs964184-? intron 9 x 10-10 NR
07/23/14 " Ischemic stroke 12,389 cases, 62,004 controls NA 4q25 PITX2 PITX2 - MIR297 rs12646447-C NR 3 x 10-8 1.14 [1.09-1.20] Affymetrix & Illumina
[~2.5 million] (imputed)
N
12q24.13 SH2B3 NAA25 rs17696736-G intron NR 6 x 10-8 1.1 [1.06-1.14]
1p36.23 ERRFI1 ERRFI1 - RPL7AP18 rs225132-G NR 6 x 10-8 1.1236 [1.08-1.16]
1p36.23 PARK7 PARK7 rs161802-T intron NR 2 x 10-7 1.1111 [1.08-1.16]
3q23 SPSB4 SPSB4 rs16851055-A intron NR 7 x 10-7 1.1111 [1.06-1.16]
17p12 FLJ45455 SHISA6 rs4792143-T intron NR 5 x 10-6 1.0989 [1.05-1.15]
07/23/14 " Large artery stroke 2,167 cases, 49,159 controls NA 7p21.1 HDAC9 TWIST1 rs2107595-A intron 3 x 10-12 1.39 [1.27-1.52] Illumina and Affymetrix
[~2.4 Million] (imputed)
N
11q22.3 ALKBH8 SMARCE1P1 - ALKBH8 rs7937106-C 6 x 10-8 1.69 [1.40-2.04]
5q21.1 Intergenic CTD-2151A2.1 rs17167021-G intron 1 x 10-7 1.81 [1.42-2.30]
14q24.3 TTLL5 TTLL5 rs1005224-T intron 1 x 10-7 1.2048 [1.11-1.3]
9p21.3 Intergenic UBA52P6 - DMRTA1 rs1333047-T 2 x 10-7 1.2 [1.11-1.29]
6p21.1 SUPT3H TRNAI25 rs632728-T 2 x 10-7 1.19 [1.11-1.28]
14q24.3 ZDHHC22 ZDHHC22 rs1465330-A intron 4 x 10-7 1.1905 [1.1-1.28]
13q31.1 RNF219 RNF219 - RPL21P111 rs4304924-G 5 x 10-6 1.1765 [1.1-1.27]
2q21.3 TMEM163 TMEM163 rs10179686-T intron 8 x 10-6 1.69 [1.34-2.13]




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