Catalog of Published Genome-Wide Association Studies

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

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 03/26/14 Chung S September 11, 2013 Breast Cancer Res A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. Adverse response to chemotherapy in breast cancer (alopecia) 303 Japanese ancestry cases, 880 Japanese ancestry controls 23 Japanese ancestry cases 2q23.3 CACNB4 CACNB4 rs3820706-G nearGene-5 0.57 2 x 10-9 (Recessive) 2.38 [1.44-3.93] Illumina [555,600] N 2q23.3 STAM2 STAM2 rs16830728-T intron 0.59 3 x 10-8 (Recessive) 3.61 [2.17-5.98] 10q21.1 PCDH15 PCDH15 rs7476422-G intron 0.82 3 x 10-7 (Allelic) 2.06 [1.54-2.75] 03/26/14 " Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) 119 Japanese ancestry cases, 105 Japanese ancestry controls NA 9q31.2 ZNF462 ZNF462 rs1858231-C intron 0.22 2 x 10-6 (Allelic) 2.71 [1.79-4.12] Illumina [555,600] N 11q14.2 ME3 ME3 rs1870323-T intron 0.64 2 x 10-6 (Allelic) 2.92 [1.87-4.57] 15q25.3 KLHL25 MIR548AP - RNA5SP400 rs4262906-C 0.35 3 x 10-6 (Allelic) 2.5 [1.71-3.67] 5q14.3 RPL10AP9 MIR3607 - RPL10AP9 rs2471042-T 0.21 5 x 10-6 (Dominant) 2.51 [1.64-3.81] 10p14 LOC100507143 LINC00708 - KRT8P37 rs11255615-G 0.38 5 x 10-6 (Allelic) 2.4 [1.65-3.53] 5q14.3 RPL10AP9 MIR3607 - RPL10AP9 rs1493354-T 0.22 9 x 10-6 (Dominant) 2.37 [1.56-3.6] 18q21.33 SERPINB5 ATP5G1P6 - SERPINB12 rs2032224-A 0.62 9 x 10-6 (Recessive) 2.16 [1.42-3.27] 03/27/14 " Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) 64 Japanese ancestry cases, 27 Japanese ancestry controls NA 1q21.2 BCL9 BCL9 rs594206-A intron 0.78 6 x 10-7 (Dominant) 36.3 [4.58-287] Illumina [555,600] N 9p24.2 SMARCA2 SMARCA2 - VLDLR-AS1 rs6475600-C 0.63 2 x 10-6 (Allelic) 7.78 3.25-18.6] 1p31.1 CTH CTH rs672203-A intron 0.52 2 x 10-6 (Dominant) 5.33 [2.59-11.0] 4p15.31 LCORL KRT18P63 - RPL21P46 rs6845621-C 0.20 2 x 10-6 (Allelic) 5.53 [2.61-11.7] 9q33.3 DENND1A PIGFP2 - LHX2 rs10818894-G 0.70 2 x 10-6 (Dominant) 10.4 [3.56-30.1] 8p23.2 LOC100129861 PAICSP4 - RSL24D1P7 rs10112481-A 0.22 4 x 10-6 (Allelic) 5.12 [2.46-10.6] 18q22.1 CDH7 LINC00305 - CDH7 rs637644-G 0.80 7 x 10-6 (Allelic) 32.5 [4.08-259] 16q23.3 CDH13 CDH13 rs11644424-T intron 0.44 8 x 10-6 (Dominant) 3.32 [1.71-6.44] 03/26/14 " Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) 116 Japanese ancestry cases, 108 Japanese ancestry controls NA 13q12.3 ALOX5AP ALOX5AP rs3885907-G intron 0.18 1 x 10-6 (Dominant) 2.66 [1.71-4.13] Illumina [555,600] N 1p21.3 LOC100130235 LOC102723542 rs4474258-A nearGene-3 0.43 5 x 10-6 (Recessive) 1.89 [1.29-2.75] 10p13 PRPF18 PRPF18 rs7089227-G intron 0.41 7 x 10-6 (Dominant) 1.99 [1.37-2.90] 03/26/14 " Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel) 62 Japanese ancestry cases, 42 Japanese ancestry controls NA 15q25.3 KLHL25 MIR548AP - RNA5SP400 rs4262906-C 0.31 7 x 10-7 (Allelic) 4.36 [2.41-7.89] Illumina [555,600] N 3q21.3 C3orf56 C3orf56 - TPRA1 rs4234284-T 0.23 3 x 10-6 (Dominant) 3.01 [1.62-5.6] 20p13 C20orf54 SLC52A3 - FAM110A rs6117615-C 0.24 7 x 10-6 (Dominant) 3.89 [2.1-7.18] 1p32.2 LOC100507652 GOT2P1 - RPSAP20 rs10443215-C 0.04 9 x 10-6 (Allelic) 9.39 [2.77-31.8] 03/26/14 " Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) 57 Japanese ancestry cases, 63 Japanese ancestry controls NA 12q24.32 TMEM132C TMEM132C rs11059635-G intron 0.67 2 x 10-7 (Dominant) 6.63 [2.95-14.9] Illumina [555,600] N 16q23.3 CDH13 MPHOSPH6 - CDH13 rs3844412-A 0.11 4 x 10-7 (Dominant) 5.22 [2.67-10.2] 5p15.2 TRIO DNAH5 - TRIO rs163818-C 0.02 6 x 10-7 (Dominant) 11.5 [3.37-39.3] 2p21 C2orf34 CAMKMT rs698813-C intron 0.52 1 x 10-6 (Allelic) 4.27 [2.35-7.76] 21q22.3 NCRNA00111 TMPRSS2 - LINC00111 rs2838088-A 0.12 1 x 10-6 (Dominant) 4.48 [2.32-8.66]

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