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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
09/18/12 Okada Y
July 15, 2012
Nat Genet
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Renal function-related traits (BUN) 39,717 East Asian ancestry individuals 17,461 East Asian ancestry individuals View full set of 15 SNPs Affymetrix & Illumina
[2,281,523] (imputed)
N
3q27.3 BCL6, LPP BCL6 - LPP-AS2 rs10937329-T 0.69 9 x 10-30 .01 [0.0082-0.0118] mg/dl increase
3p14.1 LRIG1, KBTBD8 RPL21P41 - KBTBD8 rs13069000-G 0.17 1 x 10-19 .0093 [0.0073-0.0113] mg/dl increase
18q12.3 SLC14A2 SLC14A2 rs7227483-G intron 0.80 7 x 10-18 .0083 [0.0063-0.0103] mg/dl increase
11p14.1 MPPED2l, DCDC5 LOC101928338 rs10767873-C intron 0.69 5 x 10-16 .0068 [0.0052-0.0084] mg/dl increase
3q26.2 MECOM MECOM rs16853722-C intron 0.29 3 x 10-14 .0064 [0.0048-0.0080] mg/dl increase
1q22 MTX1, GBA GBAP1 rs2049805-T intron 0.17 2 x 10-12 .0072 [0.0052-0.0092] mg/dl increase
6q22.33 RSPO3 RPS4XP9 - RSPO3 rs1936800-T 0.50 1 x 10-11 .0052 [0.0036-0.0068] mg/dl increase
15q21.3 WDR72 WDR72 rs17730281-G missense 0.58 3 x 10-11 .0051 [0.0035-0.0067] mg/dl increase
2q13 PAX8 PAX8 rs11123170-G intron 0.35 3 x 10-10 .0051 [0.0035-0.0067] mg/dl increase
17q23.2 BCAS3 BCAS3 rs11868441-G intron 0.75 2 x 10-9 .0059 [0.0039-0.0079] mg/dl increase
09/18/12 " Renal function-related traits (eGRFcrea) 42,451 East Asian, South Asian, and South East Asian ancestry individuals 19,636 East Asian ancestry individuals 15q21.3 WDR72 WDR72 rs17730436-T intron 0.60 6 x 10-13 .0055 [0.0039-0.0071] ml/min/1.73m2 decrease Affymetrix & Illumina
[2,353,587] (imputed)
N
17q23.2 BCAS3 BCAS3 rs9895661-C intron 0.52 5 x 10-11 .0051 [0.0035-0.0067] ml/min/1.73m2 decrease
4q21.1 SHROOM3 SHROOM3 rs13146355-A intron 0.21 7 x 10-11 .0051 [0.0035-0.0067] ml/min/1.73m2 decrease
7p22.3 UNCX UNCX - MICALL2 rs10277115-T 0.35 1 x 10-10 .0058 [0.0040-0.0076] ml/min/1.73m2 decrease
16p12.3 UMOD PDILT rs11864909-C intron 0.81 4 x 10-10 .0057 [0.0039-0.0075] ml/min/1.73m2 decrease
6p21.33 MHC HCG26 rs3828890-G nearGene-3 0.11 1 x 10-9 .0079 [0.0054-0.0105] ml/min/1.73m2 decrease
11p14.1 MPPED2, DCDC5 MPPED2 - DCDC5 rs963837-T 0.64 1 x 10-9 .0043 [0.0029-0.0057] ml/min/1.73m2 decrease
6q16.3 GRIK2 ASCC3 - GRIK2 rs2797369-T 0.66 1 x 10-7 .0042 [0.0026-0.0058] ml/min/1.73m2 decrease
5q35.3 RGS14 RGS14 rs12654812-A intron 0.36 2 x 10-7 .0042 [0.0026-0.0058] ml/min/1.73m2 decrease
6q25.2 CNKSR3, RBM16 RPL31P29 - SCAF8 rs9397738-G 0.22 5 x 10-6 .0039 [0.0021-0.0057] ml/min/1.73m2 decrease
09/18/12 " Renal function-related traits (sCR) 42,257 East Asian, South Asian, and South East Asian ancestry individuals 19,662 East Asian ancestry individuals 15q21.3 WDR72 WDR72 rs17730436-T intron 0.60 1 x 10-13 .005 [0.0036-0.0064] mg/dl increase Affymetrix & Illumina
[2,353,587] (imputed)
N
4q21.1 SHROOM3 SHROOM3 rs13146355-A intron 0.21 9 x 10-12 .0047 [0.0033-0.0061] mg/dl increase
7p22.3 UNCX UNCX - MICALL2 rs10277115-T 0.35 5 x 10-11 .0052 [0.0036-0.0068] mg/dl increase
17q23.2 BCAS3 BCAS3 rs9895661-C intron 0.52 7 x 10-11 .0045 [0.0031-0.0059] mg/dl increase
16p12.3 UMOD PDILT rs11864909-C intron 0.81 1 x 10-10 .0052 [0.0036-0.0068] mg/dl increase
12q24.12 ALDH2 ALDH2 rs671-A missense 0.27 3 x 10-10 .0045 [0.0031-0.0059] mg/dl increase
11p14.1 MPPED2, DCDC5 MPPED2 - DCDC5 rs963837-T 0.64 3 x 10-9 .0037 [0.0025-0.0049] mg/dl increase
6p21.33 MHC HCG26 rs3828890-G nearGene-3 0.11 3 x 10-9 .0069 [0.0046-0.0092] mg/dl increase
5q35.3 RGS14 RGS14 rs12654812-A intron 0.36 5 x 10-7 .0036 [0.0022-0.0050] mg/dl increase
09/18/12 " Renal function-related traits (urea) 21,417 East Asian ancestry individuals 11,657 East Asian ancestry individuals 4p16.1 SLC2A9 SLC2A9 rs3775948-C intron 0.59 2 x 10-65 .1786 [0.16-0.20] mg/dl increase Affymetrix & Illumina
[2,278,301] (imputed)
N
11q13.1 SLC22A12 NRXN2 rs504915-T intron 0.82 3 x 10-63 .2251 [0.20-0.25] mg/dl increase
4q22.1 ABCG2 PKD2 rs2725220-C intron 0.32 4 x 10-30 .135 [0.11-0.16] mg/dl increase
16q23.2 MAF MAF - DYNLRB2 rs889472-C 0.57 1 x 10-9 .0711 [0.048-0.094] mg/dl increase




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