NIH

Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


NewUpdate (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. New


 

Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

 

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 listed here 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. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

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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
05/31/13 Cousminer DL
February 27, 2013
Hum Mol Genet
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
Pubertal anthropometrics 7,161 European ancestry males, 6,879 European ancestry females 5,133 European ancestry males, 4,577 European ancestry females View full set of 11 SNPs Illumina & Affymetrix
[~2.5 million] (imputed)
N
16p11.2 MAPK3 KCTD13 - TMEM219 rs4788196-G 0.44 9 x 10-11 (Single Height) .07 [0.048-0.092] unit increase
19q13.33 MAMSTR FUT2 - MAMSTR rs281379-G 0.52 5 x 10-8 (Single Height-males) .07 [0.043-0.097] unit increase
6p22.1 ZNF ZNF192P1 rs1150668-G intron 0.43 2 x 10-7 (Single Height) .06 [0.038-0.082] unit decrease
1q32.1 NUCKS1,RAB7L1 NUCKS1 rs823094-G intron 0.43 2 x 10-7 (Single Height) .05 [0.03-0.07] unit decrease
5q35.3 GRM6 GRM6 - ZNF879 rs11249608-C 0.69 6 x 10-7 (Single Height-female) .08 [0.049-0.111] unit increase
12p12.3 C12orf60,HIST4H4 C12orf60; SMCO3 rs4764124-C intron;intron 0.52 8 x 10-7 (Single Height) .05 [0.03-0.07] unit increase
9q21.12 TRPM3 TRPM3 rs10780944-G intron 0.19 8 x 10-7 (Single Height-males) .09 [0.053-0.127] unit increase
1p32.2 DAB1 DAB1 rs17541203-C intron 0.082 2 x 10-6 (Single Height-female) .13 [0.073-0.187] unit decrease
11q22.1 YAP1 YAP1 rs11225148-G intron 0.06 2 x 10-6 (Single Height) .1 [0.051-0.149] unit decrease
1p31.1 ST6 LOC101927342 rs12122440-C intron 0.16 2 x 10-6 (Single Height) .08 [0.049-0.111] unit increase
05/31/13 " Pubertal anthropometrics up to 5,043 European ancestry males, up to 5,756 European ancestry females NA View full set of 14 SNPs Illumina & Affymetrix
[~2.5 million] (imputed)
N
3p12.1 VGLL3 PRKRIRP2 - VGLL3 rs7628864-G 0.38 3 x 10-9 (Pubertal growth, females) .11 [0.073-0.147] unit decrease
6q16.3 LIN28B HACE1 - LINC00577 rs7759938-C 0.32 4 x 10-9 (Late pubertal growth) .11 [0.079-0.141] unit increase
2p23.3 ADCY3,DNAJC27,POMC DNAJC27 rs1172294-G ncRNA 0.45 1 x 10-8 (Pubertal growth) .08 [0.053-0.107] unit decrease
6p21.31 C6orf106 UHRF1BP1 rs9469890-C intron 0.88 9 x 10-8 (Pubertal growth) .12 [0.077-0.163] unit decrease
4q21.21 PRKG2, BMP3 PRKG2 - RASGEF1B rs1662853-C 0.76 1 x 10-7 (Pubertal growth) .08 [0.051-0.109] unit decrease
9q31.3 ZNF483 ZNF483 rs10980926-G intron 0.65 2 x 10-7 (Pubertal growth) .07 [0.043-0.097] unit decrease
6q16.3 LIN28B HACE1 - LINC00577 rs11156429-G 0.55 2 x 10-7 (Late pubertal growth, females) .11 [0.071-0.149] unit decrease
6p21.32 HLA-DRA,TAP2 TRNAI25 rs4959027-G 0.82 9 x 10-7 (Pubertal growth) .09 [0.057-0.123] unit decrease
9q31.2 TMEM38B SLC25A6P5 - MIR8081 rs2090409-C 0.66 2 x 10-6 (Late pubertal growth, males) .11 [0.065-0.155] unit increase
9q31.3 ZNF483 ZNF483 rs10980926-G intron 0.65 3 x 10-6 (Pubertal growth,males) .1 [0.059-0.141] unit decrease




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