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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
06/19/14 Speedy HE
December 01, 2013
Nat Genet
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
Chronic lymphocytic leukemia 1,739 European ancestry cases, 5,199 European ancestry controls 1,144 European ancestry cases, 3,151 European ancestry controls 5p15.33 CLPTM1L CLPTM1L rs31490-A intron 2 x 10-7 1.18 [1.11-1.26] Illumina
[450,000] (Imputed)
N
11/09/13 Ruark E
May 12, 2013
Nat Genet
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
Testicular germ cell tumor 986 European ancestry cases, 4,946 European ancestry controls 1,064 European ancestry cases, 10,082 European ancestry controls 5p15.33 TERT,CLPTM1L TERT - MIR4457 rs4635969-T 0.2 5 x 10-24 1.39 [1.25-1.54] Illumina
[307,291]
N
12/08/10 Rothman N
October 24, 2010
Nat Genet
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
Bladder cancer 3,532 European ancestry cases, 5,120 European ancestry controls 8,381 cases, 48,275 controls 5p15.33 TERT,CLPTM1L CLPTM1L rs401681-C intron 0.54 5 x 10-7 1.11 [1.07-1.16] Illumina
[589,299]
N
09/15/10 Hsiung CA
August 05, 2010
PLoS Genet
The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.
Lung adenocarcinoma 584 East Asian ancestry cases, 585 East Asian ancestry controls 2,184 East Asian ancestry cases, 2,515 East Asian ancestry controls 5p15.33 CLPTM1L,TERT TERT rs2736100-G intron 0.39 2 x 10-22 1.46 [1.35-1.57] Illumina
[457,504]
N
07/12/10 Turnbull C
June 13, 2010
Nat Genet
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
Testicular germ cell cancer 979 European ancestry cases, 4,947 European ancestry controls 664 European ancestry cases, 3,456 European ancestry controls 5p15.33 TERT, CLPTM1L TERT - MIR4457 rs4635969-T 0.19 1 x 10-23 1.54 [1.33-1.79] Illumina
[298,782]
N
02/28/10 Petersen GM
January 24, 2010
Nat Genet
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
Pancreatic cancer 3,851 European, Chinese and other ancestry cases, 3,934 European, Chinese and other ancestry controls NA 5p15.33 CLPTM1L CLPTM1L rs401681-T intron 0.45 7 x 10-7 1.19 [1.11-1.27] Illumina
[551,766]
N
11/09/09 Landi MT
October 15, 2009
Am J Hum Genet
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
Lung adenocarcinoma 5,739 European ancestry cases, 5,848 European ancestry controls 7,561 European ancestry cases, 13,818 European ancestry controls 5p15.33 CLPTM1L CLPTM1L rs31489-C intron 0.59 2 x 10-10 1.12 [1.09-1.16] Illumina
[515,922]
N
09/14/09 Broderick P
August 04, 2009
Cancer Res
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
Lung cancer 1,952 European ancestry cases, 1,438 European ancestry controls 2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals 5p15.33 CLPTM1L MIR4457 - CLPTM1L rs4975616-? NR 3 x 10-9 1.15 [1.10-1.20] Illumina
[511,919]
N
02/11/14 Rafnar T
January 18, 2009
Nat Genet
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
Basal cell carcinoma 1,505 European ancestry cases, 28,890 European ancestry controls 1,060 European ancestry cases, 515 European ancestry controls 5p15.33 CLPTM1L, TERT CLPTM1L rs401681-C intron 0.56 4 x 10-12 1.25 [1.18-1.34] Illumina
[302,140]
N
12/09/08 McKay JD
November 02, 2008
Nat Genet
Lung cancer susceptibility locus at 5p15.33.
Lung cancer 2,971 European ancestry cases, 3,746 European ancestry controls 2,899 European ancestry cases, 5,573 European ancestry controls 5p15.33 TERT, CLPTM1L CLPTM1L rs402710-C intron NR 4 x 10-6 1.18 [1.12-1.24] Illumina
[315,194]
N
11/25/08 Wang Y
November 02, 2008
Nat Genet
Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
Lung cancer 5,095 European ancestry cases, 5,200 European ancestry cases 2,448 European ancestry cases, 2,983 European ancestry controls 5p15.33 CLPTM1L CLPTM1L rs401681-G intron NR 8 x 10-9 1.15 [1.09-1.19] Illumina
[223,891]
N




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