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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
10/28/14 Leger PD
February 20, 2014
J Neurovirol
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) 40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls NA View full set of 11 SNPs Illumina
[936,149]
N
18p11.22 Intergenic MTCL1 - RPS4XP19 rs7244245-? 1 x 10-6 (EA) 5.365 [NR]
17q24.3 MAP2K6 MAP2K6 rs817565-? intron 3 x 10-6 (EA) 3.779 [NR]
19q13.32 HIF3A HIF3A rs3826795-? intron 3 x 10-6 (Hispanic) 12.8 [NR]
20p13 RSP04 ANGPT4 - RSPO4 rs502716-? 4 x 10-6 (Hispanic) 14 [NR]
14q24.3 ADCK1 ADCK1 - FRDAP rs4899685-? 4 x 10-6 (Hispanic) 14 [NR]
7p15.2 NFE2L3 MIR148A - NFE2L3 rs4722585-? 5 x 10-6 (AA) .2 [NR]
3q13.33 STXBP5L STXBP5L rs11707293-? intron 5 x 10-6 (Hispanic) 14.2 [NR]
7q33 CALD1 CALD1; LOC102724947 rs17169635-? intron;intron 6 x 10-6 (EA) 3.526 [NR]
10q24.2 HPSE2 HPSE2 rs11189867-? intron 7 x 10-6 (AA) 26.8 [NR]
7p15.3 Intergenic PCMTD1P3 - RNA5SP228 rs10216322-? 8 x 10-6 (EA) 4.776 [NR]
10/28/14 " Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) 19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls NA View full set of 13 SNPs Illumina
[936,149]
N
20p13 RSP04 ANGPT4 - RSPO4 rs502716-? 3 x 10-8 (Hispanic) 28 [NR]
13q31.3 GPC6 GPC6 rs7985891-? nearGene-5 2 x 10-7 (EA) 38.2 [NR]
10q23.31 KIF20B SNRPD2P1 - HTR7 rs10509586-? 4 x 10-7 (EA) 9.3 [NR]
13q33.3 LINCOO443 ATP5G1P5 - PPIAP24 rs1330950-? 8 x 10-7 (Hispanic) 17.5 [NR]
Xq27.3 Intergenic UBE2NL - RRM2P4 rs6637197-? 1 x 10-6 (EA) 14.9 [NR]
16q24.2 FBX031 FBXO31 rs1062746-? UTR-3 2 x 10-6 (Hispanic) 15.6 [NR]
14q22.2 WDHD1 WDHD1 rs28489712-? intron 3 x 10-6 (EA) 31.7 [NR]
2q13 IL37 IL1B - IL37 rs2708973-? 3 x 10-6 (EA) 31.7 [NR]
9p24.2 GLIS3 GLIS3 rs717423-? intron 4 x 10-6 (Hispanic) 14.1 [NR]
1q21.3 IL6R IL6R rs8192282-?* cds-synon 5 x 10-6 (Hispanic) 23.2 [NR]
10/28/14 " Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) 8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls NA View full set of 16 SNPs Illumina
[936,149]
N
10p15.1 IL2RA IL2RA rs12722486-? intron 2 x 10-9 (EA) 38.2 [NR]
10q11.21 CXCL12 LINC00841 - CXCL12 rs266095-? 8 x 10-9 (EA) 56.3 [NR]
6p25.3 Intergenic CICP18 - DUSP22 rs9501753-? 1 x 10-8 (EA) NR
2q32.3 Intergenic HNRNPA1P47 - AHCYP5 rs801378-? 2 x 10-8 (Hispanic) NR
2q32.3 Intergenic HNRNPA1P47 - AHCYP5 rs801350-? 2 x 10-8 (Hispanic) NR
2q24.2 TANK TANK rs7568498-? intron 2 x 10-8 (Hispanic) NR
7p21.1 HDAC9 HDAC9 rs213273-? intron 2 x 10-8 (Hispanic) NR
12q15 PTPRB PTPRB rs17108344-? cds-synon 3 x 10-8 (EA) 25.3 [NR]
3p14.1 LRIG1 LRIG1 rs9827908-? intron 6 x 10-8 (AA) 48.5 [NR]
1q25.3 ZNF648 CACNA1E - ZNF648 rs7554182-? 6 x 10-8 (AA) 48.5 [NR]




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