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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
11/18/11 Chambers JC
October 16, 2011
Nat Genet
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Liver enzyme levels (alanine transaminase) Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals NA 22q13.31 PNPLA3, SAMM50 PNPLA3 rs738409-G missense 0.23 1 x 10-45 6 [5.0-7.0] % increase Affymetrix, Illumina, and Perlegen
[~2.6 million] (imputed)
N
4q22.1 HSD17B13, MAPK10 GAPDHP60 - MIR5705 rs6834314-A 0.75 3 x 10-9 2.6 [1.90-3.40] % increase
10q24.2 CPN1 DNMBP-AS1 - CPN1 rs10883437-T 0.64 4 x 10-9 2.3 [1.40-3.10] % increase
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954021-A 0.50 5 x 10-9 1.6 [0.60-2.60] % increase
11/18/11 " Liver enzyme levels (alkaline phosphatase) Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals NA View full set of 14 SNPs Affymetrix, Illumina, and Perlegen
[~2.6 million] (imputed)
N
9q34.2 ABO ABO - SURF6 rs579459-T 0.80 3 x 10-123 8.8 [7.40-10.2] % increase
1p36.12 ALPL, NBPF3 NBPF3 rs1976403-C nearGene-5 0.40 2 x 10-50 3.6 [3.0-4.2] % increase
6p22.3 ALDH5A1, GPLD1 GPLD1 rs1883415-C nearGene-5 0.33 6 x 10-26 3.1 [2.50-3.70] % increase
10q21.3 JMJD1C, NRBF2 JMJD1C; MIR1296 rs7923609-G intron;nearGene-5 0.50 6 x 10-23 2.2 [1.70-2.70] % increase
19q13.33 FUT2 FUT2 rs281377-T cds-synon 0.43 1 x 10-15 1.8 [0.80-2.80] % increase
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954021-A 0.50 2 x 10-13 1.4 [0.50-2.30] % increase
17p13.1 ASGR1, DLG4 ASGR1 - DLG4 rs314253-C 0.33 8 x 10-12 2.1 [1.50-2.80] % increase
8p23.1 PPP1R3B PPP1R3B - TNKS rs6984305-A 0.11 2 x 10-10 2.7 [1.10-4.40] % increase
20p11.21 ABHD12,GINS1, PYGB ABHD12 rs7267979-G intron 0.57 7 x 10-10 1.5 [0.90-2.0] % increase
9q31.1 ALDOB, C9orf125 ALDOB - TMEM246 rs10819937-C 0.17 1 x 10-9 2.5 [1.40-3.60] % increase
11/18/11 " Liver enzyme levels (gamma-glutamyl transferase) Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian individuals NA View full set of 26 SNPs Affymetrix, Illumina, and Perlegen
[~2.6 million] (imputed)
N
22q11.23 GGT1, GGTLC2 GGT1 rs2073398-G intron 0.34 1 x 10-109 12.3 [10.90-13.70] % increase
12q24.31 HNF1A, C12orf27 HNF1A rs7310409-G intron 0.59 7 x 10-45 6.8 [5.70-7.80] % increase
14q32.32 C14orf73 EXOC3L4 rs944002-G intron 0.21 6 x 10-29 6.3 [4.90-7.70] % increase
4q31.21 ZNF827 ZNF827 rs4547811-C intron 0.18 3 x 10-27 6.4 [5.00-7.90] % increase
15q22.2 RORA RORA rs339969-A intron 0.62 7 x 10-20 4.5 [3.90-5.10] % increase
1p36.13 RSG1, EPHA2 EPHA2 - ARHGEF19 rs1497406-G 0.56 3 x 10-19 3.8 [2.70-4.80] % increase
22q11.21 MICAL3 MICAL3 rs1076540-C intron 0.78 1 x 10-16 4.8 [3.50-6.10] % increase
1q22 DPM3, EFNA1, PKLR HMGN2P18 - KRTCAP2 rs10908458-T 0.58 2 x 10-15 3.7 [3.10-4.20] % increase
2p23.3 C2orf16, GCKR GCKR rs1260326-T missense 0.38 4 x 10-13 3.2 [2.40-4.0] % increase
18q21.31 NEDD4L NEDD4L - MIR122 rs4503880-T 0.21 3 x 10-12 3.6 [2.50-4.70] % increase




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