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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
12/11/14 Walsh KM
June 08, 2014
Nat Genet
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
Glioma (high-grade) 1,013 European ancestry cases, 6,595 European ancestry controls 631 European ancestry cases, 1,141 European ancestry controls 5p15.33 TERT TERT rs2736100-C intron 0.51 1 x 10-15 1.39 [1.28-1.50] Illumina & Affymetrix
[2,362,330] Imputed
N
10/09/14 Liu Y
January 21, 2014
PLoS One
A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.
Telomere length 2,632 Han Chinese ancestry individuals 3,917 Han Chinese ancestry individuals, 696 European ancestry individuals 5p15.33 TERT TERT rs2736100-C intron NR 4 x 10-6 .0808 [NR] unit increase Affymetrix
[585,206]
N
10/02/14 Stacey SN
January 08, 2014
Hum Mol Genet
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Basal cell carcinoma 4,208 European ancestry cases, 109,408 European ancestry controls up to 1,480 European ancestry cases, up to 4,610 European ancestry controls 5p15.33 TERT CLPTM1L rs401681-C intron 2 x 10-12 1.23 [1.16-1.30] Illumina
[38.5 million] (imputed)
N
07/29/14 Purrington KS
December 09, 2013
Carcinogenesis
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) 1,529 European ancestry cases, 3,399 European ancestry controls 2,148 European ancestry cases, 1,309 European ancestry controls 5p15.33 TERT TERT rs10069690-A intron 1 x 10-7 1.24 [1.14-1.34] Illumina
[NR] (imputed)
N
05/01/14 Figueroa JD
October 24, 2013
Hum Mol Genet
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
Bladder cancer up to 2,305 European ancestry cases, up to 3,901 European ancestry controls up to 13,298 cases, up to 54,535 controls 5p15.33 TERT, CLPTML CLPTM1L rs401681-C intron 0.54 4 x 10-11 1.12 [1.08-1.16] Illumina
[462,190]
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
11/01/13 Fingerlin TE
April 14, 2013
Nat Genet
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
Interstitial lung disease 1,161 European ancestry cases, 4,683 European ancestry controls 876 European ancestry cases, 1,890 European ancestry controls 5p15.33 TERT TERT rs2736100-A intron 0.49 2 x 10-19 1.37 [1.27-1.49] Illumina
[439,828]
N
09/12/13 Garcia-Closas M
April 01, 2013
Nat Genet
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
Breast cancer 4,193 European ancestry cases, 35,194 European ancestry controls 6,514 European ancestry cases, 41,455 European ancestry controls 5p15.33 TERT TERT rs10069690-T intron 0.321 5 x 10-12 1.15 [1.11-1.20] Illumina
[NR]
N
09/12/13 Michailidou K
April 01, 2013
Nat Genet
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Breast cancer 10,052 European ancestry cases, 12,575 European ancestry controls 45,290 European ancestry cases, 41,880 European ancestry controls 5p15.33 TERT TERT rs10069690-T intron 0.26 7 x 10-9 1.06 [1.04-1.09] Illumina & Affymetrix
[~2.6 million] (Imputed)
N
02/01/13 Lan Q
November 11, 2012
Nat Genet
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
Lung cancer 5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls 1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls 5p15.33 TERT, hTERT TERT rs2736100-G intron 0.40 4 x 10-27 1.38 [1.30-1.47] Illumina
[596,032]
N
10/09/12 Rajaraman P
August 11, 2012
Hum Genet
Genome-wide association study of glioma and meta-analysis.
Glioma 1,856 European ancestry cases, 4,955 European ancestry controls 5,015 European ancestry cases, 11,601 European ancestry controls 5p15.33 TERT TERT rs2736100-G intron 0.494 4 x 10-9 1.3 [1.19-1.41] Illumina
[559,977]
N
09/20/12 Shiraishi K
July 15, 2012
Nat Genet
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
Lung adenocarcinoma 1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls 4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls 5p15.33 TERT TERT rs2853677-C intron 0.30 3 x 10-40 1.41 [1.32-1.50] Illumina
[538,166]
N
11/24/11 Haiman CA
October 30, 2011
Nat Genet
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
Breast cancer 1,004 African American cases, 2,745 African American controls, 1,718 European ancestry cases, 3,670 European ancestry controls 2,292 European ancestry cases, 16,901 European ancestry controls 5p15.33 TERT TERT rs10069690-T intron 0.26 1 x 10-10 1.18 [1.13-1.25] Illumina
[3,154,485] (imputed)
N
12/10/11 Barrett JH
October 09, 2011
Nat Genet
Genome-wide association study identifies three new melanoma susceptibility loci.
Melanoma 2,804 European ancestry cases, 7,618 European ancestry controls 5,551 European ancestry cases, 7,449 European ancestry controls 5p15.33 TERT, CLPTM1L CLPTM1L rs401681-A intron 0.46 3 x 10-8 1.2 [1.12-1.28] Illumina
[594,997]
N
09/21/11 Yang TH
August 09, 2011
BMC Med Genomics
Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.
Glioma 781 European ancestry cases, 3,992 European ancestry controls NA 5p15.33 TERT TERT rs2736100-? intron NR 7 x 10-9 NR Illumina
[489,781]
N
08/22/11 Kote-Jarai Z
July 10, 2011
Nat Genet
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
Prostate cancer 6,621 European ancestry cases, 6,939 European ancestry controls 22,957 European ancestry cases, 23,234 European ancestry controls, 420 East Asian ancestry cases, 433 East Asian ancestry controls, 112 African American cases, 298 African American controls, 7,140 cases, 5,455 controls 5p15.33 TERT TERT rs2242652-G intron 0.81 3 x 10-24 1.15 [1.11-1.19] NR
[2.6 million] (imputed)
N
08/03/11 Hu Z
July 03, 2011
Nat Genet
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
Lung cancer 2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls 6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls 5p15.33 TERT TERT rs2736100-C intron 0.41 1 x 10-27 1.27 [1.22-1.33] Affymetrix
[906,703]
N
06/01/11 Sanson M
April 29, 2011
Hum Mol Genet
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
Glioma 4,147 European ancestry cases, 7,435 European ancestry controls NA 5p15.33 TERT TERT rs2736100-? intron NR 1 x 10-14 1.25 [NR] Illumina
[424,460]
N
01/13/11 Gudmundsson J
December 15, 2010
Sci Transl Med
Genetic correction of PSA values using sequence variants associated with PSA levels.
Serum prostate-specific antigen levels 7,538 European ancestry individuals 2,373 European ancestry individuals 5p15.33 TERT CLPTM1L rs401681-C intron 0.55 1 x 10-10 7 [NR] % increase Illumina
[304,070]
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
10/07/10 Miki D
September 26, 2010
Nat Genet
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.
Lung adenocarcinoma 1,004 Japanese ancestry cases, 1,900 Japanese ancestry controls 1,094 East Asian ancestry cases, 9,148 East Asian ancestry controls 5p15.33 TERT TERT rs2736100-C intron 0.39 3 x 10-11 1.27 [1.19-1.37] Illumina
[432,024]
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
5p15.33 TERT TERT rs2736100-T intron 0.49 8 x 10-15 1.33 [1.18-1.50]
09/04/13 Kamatani Y
February 07, 2010
Nat Genet
Genome-wide association study of hematological and biochemical traits in a Japanese population.
Red blood cell count 14,392 Japanese ancestry individuals NA 5p15.33 TERT TERT rs2736100-G intron 0.4 3 x 10-8 .067 [0.043-0.091] unit increase Illumina
[561,583]
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 TERT TERT rs2736100-G intron 0.50 2 x 10-10 1.12 [1.08-1.16] Illumina
[515,922]
N
07/12/09 Shete S
July 05, 2009
Nat Genet
Genome-wide association study identifies five susceptibility loci for glioma.
Glioma 1,878 European ancestry cases, 3,670 European ancestry controls 2,545 European ancestry cases, 2,953 European ancestry controls 5p15.33 TERT TERT rs2736100-G intron 0.49 2 x 10-17 1.27 [1.19-1.37] Illumina
[454,576]
N
5p15.33 TERT TERT rs2853676-A intron 0.73 4 x 10-14 1.26 [1.20-1.32]
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 Mushiroda T
October 01, 2008
J Med Genet
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis.
Idiopathic pulmonary fibrosis 159 Japanese ancestry cases, 934 Japanese ancestry controls 83 Japanese ancestry cases, 535 Japanese ancestry controls 5p15.33 TERT TERT rs2736100-A intron 0.41 3 x 10-8 2.11 [1.61-2.78] Illumina
[214,508]
N




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