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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
05/02/14 Seppala I
October 24, 2013
Eur Heart J
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
Serum dimethylarginine levels (asymmetric) 5110 European ancestry individuals NA View full set of 21 SNPs Illumina and Affymetrix
[10,085,758] (Imputed)
N
1p22.3 DDAH1 DDAH1 rs28489187-G intron 0.216 1 x 10-40 .37 [0.32-0.42] unit increase
5p13.2 Intergenic AGXT2 rs37370-T missense 0.906 1 x 10-7 .184 [0.12-0.25] unit increase
1p22.3 Intergenic CLCA1 - CLCA4 rs11161841-A 0.114 7 x 10-7 .178 [0.3-0.44] unit increase
16q22.1 Intergenic HSPE1P5 - CDH1 rs192253604-A 0.096 8 x 10-7 .175 [0.11-0.24] unit decrease
5q33.3 Intergenic HAVCR1 - HAVCR2 rs193098517-A 0.008 8 x 10-7 .593 [0.36-0.83] unit decrease
4q24 Intergenic CISD2 rs78640361-T* intron 0.248 1 x 10-6 .127 [0.076-0.178] unit decrease
8p21.3 Intergenic PEBP4 rs12155789-G intron 0.144 1 x 10-6 .147 [0.088-0.206] unit decrease
10q26.2 Intergenic LINC01163 - MGMT rs193189882-A 0.009 2 x 10-6 .71 [0.42-1] unit decrease
2p11.2 Intergenic RNF103-CHMP3 rs114532231-T intron 0.008 2 x 10-6 .684 [0.4-0.96] unit decrease
11q13.4 Intergenic ART2P - PDE2A rs183778342-A 0.003 3 x 10-6 1.273 [0.74-1.8] unit increase
05/02/14 " Serum dimethylarginine levels (asymmetric/symetric ratio) 5110 European ancestry individuals NA View full set of 24 SNPs Illumina and Affymetrix
[10,085,758] (Imputed)
N
5p13.2 AGXT2 AGXT2 rs37369-T missense 0.088 2 x 10-32 .41 [0.34-0.48] unit decrease
1p22.3 DDAH1 DDAH1 rs28489187-G intron 0.216 1 x 10-20 .259 [0.20-0.31] unit increase
7p22.1 NR C1GALT1 rs12702595-A intron 0.444 6 x 10-7 .101 [0.062-0.14] unit increase
15q21.1 NR SQRDL - SEMA6D rs35053544-C 0.075 8 x 10-7 .189 [0.11-0.26] unit decrease
6p24.3 NR OFCC1 rs116201121-A intron 0.011 1 x 10-6 .521 [0.31-0.73] unit decrease
2p16.1 NR LINC01122 rs111835151-C intron 0.043 2 x 10-6 .288 [0.17-0.41] unit decrease
16q23.1 NR CNTNAP4 - MIR4719 rs113716969-C 0.016 2 x 10-6 .473 [0.28-0.67] unit increase
11q13.1 NR SLC25A45 rs34400381-A missense 0.043 2 x 10-6 .269 [0.16-0.38] unit decrease
13q32.1 NR SOX21-AS1 - BRD7P5 rs184488877-A 0.007 2 x 10-6 .89 [-0.18048-0.55648] unit decrease
2p25.1 NR ADAM17; IAH1 rs55794209-A intron;ncRNA 0.066 3 x 10-6 .227 [0.13-0.32] unit decrease
05/02/14 " Serum dimethylarginine levels (symmetric) 5110 European ancestry individuals NA View full set of 30 SNPs Illumina and Affymetrix
[10,085,758] (Imputed)
N
5p13.2 AGXT2 AGXT2 rs37369-T missense 0.088 1 x 10-40 .47 [0.4-0.54] unit increase
1p22.3 DDAH1 DDAH1 rs1884139-T intron 0.371 1 x 10-18 .18 [0.14-0.22] unit decrease
11q13.1 SLC25A45 SLC25A45 rs34400381-A missense 0.043 2 x 10-10 .36 [0.25-0.47] unit increase
10q26.2 NR LINC01163 - MGMT rs749141-C 0.076 4 x 10-7 .196 [0.12-0.27] unit increase
16p13.13 NR SNX29 rs117147010-T intron 0.029 1 x 10-6 .358 [0.21-0.5] unit decrease
7p22.1 NR C1GALT1 rs12702595-A intron 0.444 1 x 10-6 .099 [0.06-0.138] unit decrease
9p21.1 NR LINC01243 - HMGB3P23 rs148359873-T 0.03 1 x 10-6 .361 [0.21-0.51] unit increase
4p14 NR MRPS33P2 - LINC01258 rs115426111-T 0.998 1 x 10-6 1.519 [0.91-2.13] unit decrease
2q34 NR ERBB4 rs1505368-A intron 0.509 1 x 10-6 .097 [0.058-0.136] unit decrease
3q27.3 NR BCL6 - LPP-AS2 rs184662298-G 0.996 2 x 10-6 1.431 [0.85-2.02] unit decrease




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