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
09/12/13 Berndt SI
April 07, 2013
Nat Genet
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Body mass index 7,962 European ancestry high body mass index individuals, 8,106 European ancestry low body mass index individuals 4,900 European ancestry high body mass index individuals, 4,891 European ancestry low body mass index individuals 16q12.2 FTO FTO rs11075990-G intron 0.4 2 x 10-51 1.35 [NR] Illumina & Affymetrix
[~2.8 millions] (Imputed)
N
18q21.32 MC4R RPS3AP49 - MC4R rs8089364-C 0.27 4 x 10-21 1.24 [NR]
2p25.3 TMEM18 FAM150B - TMEM18 rs2903492-A 0.83 6 x 10-15 1.26 [NR]
1p31.1 NEGR1 GDI2P2 - RPL31P12 rs2568958-A 0.6 2 x 10-14 1.16 [NR]
4p12 GNPDA2 PRDX4P1 - PRKRIRP9 rs10938397-G 0.43 2 x 10-13 1.16 [NR]
1q25.2 SEC16B BRINP2 - SEC16B rs633715-C 0.19 5 x 10-12 1.21 [NR]
6p12.3 TFAP2B TFAP2B rs987237-G intron 0.18 2 x 10-11 1.2 [NR]
11p14.1 BDNF BDNF rs2030323-C intron 0.79 6 x 10-10 1.18 [NR]
12q13.12 LOC144233 BCDIN3D - RPL35AP28 rs7138803-A 0.38 2 x 10-9 1.13 [NR]
3q27.2 ETV5 ETV5 rs1516725-C intron 0.86 4 x 10-8 1.21 [NR]
09/12/13 " Height 8,097 European ancestry tall individuals, 8,099 European ancestry short individuals 4,872 European ancestry tall individuals, 4,831 European ancestry short individuals View full set of 86 SNPs Illumina & Affymetrix
[~2.8 millions] (Imputed)
N
3q23 ZBTB38 ZBTB38 rs1991431-A intron 0.44 4 x 10-47 1.33 [NR]
20q11.22 GDF5 GDF5 rs224333-A intron 0.36 8 x 10-37 1.31 [NR]
12q14.3 HMGA2 HMGA2 rs1351394-T intron 0.49 7 x 10-32 1.26 [NR]
7q21.2 CDK6 CDK6 rs42235-T intron 0.3 1 x 10-28 1.28 [NR]
6p22.2 HIST1H2BF HIST1H2AD; HIST1H2BF; HIST1H3D rs806794-A nearGene-5;nearGene-3;nearGene-5 0.7 1 x 10-25 1.26 [NR]
13q14.3 DLEU7 RPL34P26 - DLEU7 rs3118906-G 0.72 2 x 10-24 1.26 [NR]
7p22.3 AMZ1 AMZ1 - GNA12 rs798554-C 0.68 4 x 10-23 1.24 [NR]
1q21.2 MTMR11 MTMR11 rs11205303-C missense 0.38 4 x 10-23 1.25 [NR]
4p15.31 LCORL LCORL rs6845078-C intron 0.85 3 x 10-22 1.38 [NR]
4q31.21 HHIP HHIP; HHIP-AS1 rs7689420-C intron;nearGene-5 0.84 4 x 10-21 1.33 [NR]
09/12/13 " Obesity 93,015 European ancestry overweight individuals, 32,858 European ancestry class I obese individuals, 9,889 European ancestry class II obese individuals, 2,896 European ancestry class III obese individuals, up to 65,840 European ancestry controls 65,332 European ancestry overweight individuals, 22,373 European ancestry class I obese individuals, 5,476 European ancestry class II obese individuals, 1,162 European ancestry class III obese individuals, up to 39,294 European ancestry controls View full set of 66 SNPs Illumina & Affymetrix
[~2.8 millions] (Imputed)
N
16q12.2 FTO FTO rs8043757-T intron 0.4 5 x 10-110 (Obesity class I) 1.23 [NR]
16q12.2 FTO FTO rs1558902-A intron 0.41 2 x 10-81 (Overweight) 1.14 [NR]
16q12.2 FTO FTO rs7185735-G intron 0.4 1 x 10-79 (Obesity class II) 1.33 [NR]
2p25.3 TMEM18 FAM150B - TMEM18 rs6711012-C 0.82 3 x 10-40 (Obesity class I) 1.18 [NR]
16q12.2 FTO FTO rs1421085-C intron 0.41 6 x 10-39 (Obesity class III) 1.45 [NR]
18q21.32 MC4R RPS3AP49 - MC4R rs538656-T 0.24 2 x 10-36 (Obesity class I) 1.15 [NR]
2p25.3 TMEM18 FAM150B - TMEM18 rs6711012-C 0.82 6 x 10-35 (Overweight) 1.11 [NR]
4p12 GNPDA2 PRDX4P1 - PRKRIRP9 rs10938397-G 0.43 3 x 10-34 (Obesity class I) 1.12 [NR]
4p12 GNPDA2 PRDX4P1 - PRKRIRP9 rs13130484-T 0.43 4 x 10-28 (Overweight) 1.08 [NR]
18q21.32 MC4R RPS3AP49 - MC4R rs10871777-G 0.24 2 x 10-27 (Overweight) 1.1 [NR]
09/12/13 " Waist-hip ratio 4,774 European ancestry high waist-to-hip ratio individuals, 5,481 European ancestry low waist-to-hip ratio individuals 3,351 European ancestry high waist-to-hip ratio individuals, 3,352 European ancestry low waist-to-hip ratio individuals 6p25.1 LY86 LY86 - BTF3P7 rs1294421-G 0.62 2 x 10-10 1.16 [NR] Illumina & Affymetrix
[~2.8 millions] (Imputed)
N
6q22.33 RSPO3 RSPO3 rs7745274-A intron 0.55 9 x 10-10 1.15 [NR]
1q41 LYPLAL1 RIMKLBP2 - ZC3H11B rs2820464-G 0.66 7 x 10-9 1.16 [NR]
2q24.3 COBLL1 EIF3EP3 - COBLL1 rs13389219-C 0.57 3 x 10-8 1.13 [NR]




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