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
12/03/10 Croteau-Chonka DC
October 21, 2010
Obesity (Silver Spring)
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
Body mass index 1,780 Filipino ancestry females NA 1p31.3 ATG4C ATG4C - LINC00466 rs17124318-C 0.87 6 x 10-7 .07 [0.04-0.10] unit increase Affymetrix
[2,073,674] (imputed)
N
2q36.1 KCNE4 KCNE4 - TRNAK39P rs1440072-C 0.06 4 x 10-6 .06 [0.04-0.08] unit increase
9q31.2 RAD23B RAD23B - HMGN2P32 rs817858-G 0.13 7 x 10-6 .04 [0.02-0.06] unit increase
12q23.1 ANKS1B ANKS1B rs2373011-C intron 0.42 9 x 10-6 .03 [0.02-0.04] unit increase
17q25.3 SEPT9 MIR4316 - FLJ45079 rs9906155-T 0.91 9 x 10-6 .05 [0.02-0.07] unit increase
7q21.13 ZNF804B ZNF804B rs1406503-C intron 0.05 9 x 10-6 .07 [0.04-0.10] unit increase
12/03/10 " Height 1,792 Filipino ancestry females NA 2p21 PIGF, CRIPT PIGF rs17818399-C intron 0.17 3 x 10-7 1.13 [0.70-1.56] cm increase Affymetrix
[2,073,674](imputed)
N
2q33.2 CYP20A1 CYP20A1 rs11888559-T UTR-3 0.15 2 x 10-6 1.05 [0.62-1.48] cm increase
4q32.2 FSTL5 FSTL5 rs17638464-G intron 0.83 2 x 10-6 1.38 [0.81-1.95] cm increase
12q23.1 LTA4H TRNAD12 - ELK3 rs2660869-C 0.02 3 x 10-6 4.39 [2.55-6.23] cm increase
1q23.3 PBX1 PBX1; LOC100505795 rs6670655-T intron;ncRNA 0.18 3 x 10-6 1.26 [0.74-1.78] cm increase
2q33.3 FASTKD2 FASTKD2 rs2277912-G intron 0.15 5 x 10-6 1.07 [0.62-1.52] cm increase
7q21.11 RPL13AP17 MAGI2 rs2691543-T intron 0.97 5 x 10-6 3.45 [1.97-4.93] cm increase
12/03/10 " Waist circumference 1,779 Filipino ancestry females NA 2q36.1 KCNE4 KCNE4 - TRNAK39P rs1440072-C 0.06 8 x 10-7 3.66 [2.21-5.11] cm increase Affymetrix
[2,073,674](imputed)
N
12q23.1 ANKS1B ANKS1B rs2373011-C intron 0.42 2 x 10-6 1.71 [1.00-2.42] cm increase
16q24.1 KLHL36 KLHL36 rs11647936-A intron 0.77 4 x 10-6 2.29 [1.32-3.26 cm increase
3q28 IL1RAP IL1RAP rs9290936-G intron 0.61 4 x 10-6 1.79 [1.03-2.55] cm increase
12q14.1 PPM1H MIRLET7I - PPM1H rs7302017-G 0.46 5 x 10-6 1.71 [0.97-2.45] cm increase
5q35.1 CCDC99 MIR585 - SPDL1 rs13156607-T 0.11 5 x 10-6 3.91 [2.24-5.58] cm increase
5q34 Intergenic RPL21P59 - RPL7P20 rs9313296-C 0.01 6 x 10-6 9.4 [5.35-13.45] cm increase
15q21.1 SQRDL SQRDL - SEMA6D rs12594515-C 0.69 7 x 10-6 1.73 [0.98-2.48] cm increase
12/03/10 " Weight 1,780 Filipino ancestry females NA 5q34 Intergenic RPL21P59 - RPL7P20 rs9313296-C 0.01 7 x 10-7 10 [6.07-13.93] kg increase Affymetrix
[2,073,674](imputed)
N
4p15.2 ANAPC4 ANAPC4 rs16877106-C intron 0.96 1 x 10-6 5.42 [3.22-7.62] kg increase
8q24.13 Intergenic HAS2-AS1 - MRPS36P3 rs907121-C 0.57 2 x 10-6 1.83 [1.08-2.58] kg increase
12q23.1 C12orf55 CDK17 - C12orf55 rs11108495-T 0.45 4 x 10-6 1.55 [0.89-2.21] kg increase
1p31.3 ATG4C ATG4C - LINC00466 rs17124318-C 0.87 4 x 10-6 3.98 [2.30-5.66] kg increase
10q21.1 PCDH15 MIR548F1 - MTRNR2L5 rs10740609-T 0.07 5 x 10-6 3.41 [1.94-4.87] kg increase
15q21.1 SQRDL SQRDL - SEMA6D rs12594515-C 0.69 5 x 10-6 1.71 [0.98-2.44] kg increase




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