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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
08/07/13 Wade TD
April 09, 2013
Int J Eat Disord
Genetic variants associated with disordered eating.
Anorexia nervosa 237 European ancestry female cases, 2,287 European ancestry female controls NA View full set of 15 SNPs Illumina
[6,150,213] (Imputed)
N
7q34 CLEC5A, LOC136242 KIAA1147, MGAM,OR9A4, SSBP1,TAS2R3, TAS2R4,TAS2R5, TAS2R38, WEE2 MTND1P3 - MYL6P4 rs145241704-T 0.952 2 x 10-7 .143 [0.09-0.196] unit decrease
18q22.3 TSHZ1,C18orf62 TSHZ1 - SMIM21 rs62090893-G 0.921 3 x 10-7 .085 [0.052-0.118] unit decrease
Xp11.4 SYTL5 MIR548AJ2 - SRPX rs56156506-A 0.813 1 x 10-6 .053 [0.031-0.075] unit decrease
10q23.1 GRID1 GRID1 rs76765968-T intron 0.856 2 x 10-6 .064 [0.037-0.091] unit decrease
10q22.2 Intergenic C10orf11 rs2043090-A intron 0.959 3 x 10-6 .119 [0.068-0.17] unit decrease
5q15 MCTP1 MCTP1 rs469339-A intron 0.977 3 x 10-6 .144 [0.083-0.205] unit decrease
7p21.3 Intergenic THSD7A - TMEM106B rs114945094-G 0.959 4 x 10-6 .135 [0.078-0.192] unit decrease
8q22.1 CNBD1 LOC100616530 rs77742018-A intron 0.946 4 x 10-6 .117 [0.068-0.166] unit decrease
1p31.1 Intergenic RPL23P3 - ELTD1 rs1937020-T 0.681 4 x 10-6 .041 [0.023-0.059] unit decrease
10p13 CAMK1D CAMK1D rs75263140-A intron 0.974 6 x 10-6 .172 [0.098-0.246] unit decrease
08/07/13 " Bulimia nervosa 151 European ancestry female cases, 2,291 European ancestry female controls NA View full set of 23 SNPs Illumina
[6,150,213] (Imputed)
N
2p24.2 NT5C1B NT5C1B - FLJ41481 rs1445130-A 0.864 1 x 10-7 .056 [0.036-0.076] unit decrease
8q12.3 NKAIN3 NKAIN3 rs142014203-T intron 0.974 9 x 10-7 .126 [0.075-0.177] unit decrease
21q21.1 CHODL, TMPRSS15 CHODL rs77600076-A intron 0.971 1 x 10-6 .124 [0.075-0.173] unit decrease
1p32.2 DAB1 DAB1 rs985795-T intron 0.946 2 x 10-6 .094 [0.055-0.133] unit decrease
16p13.13 PRM1, PRM2, PRM3,SOCS1, TNP2 PRM1 - MIR548H2 rs117096873-C 0.974 2 x 10-6 .129 [0.076-0.182] unit decrease
22q12.2 SMTN TUG1 - SMTN rs111383589-C 0.892 2 x 10-6 .087 [0.052-0.122] unit decrease
6q23.3 PERP PERP rs1556640-T intron 0.88 2 x 10-6 .075 [0.044-0.106] unit decrease
5q31.1 CATSPER3,PITX1,PCBD2 CATSPER3 rs299362-A intron 0.886 3 x 10-6 .062 [0.037-0.087] unit decrease
4q13.1 Intergenic EXOC5P1 - LARP1BP1 rs145379083-G 0.51 3 x 10-6 .037 [0.021-0.053] unit decrease
15q25.3 PDE8A PDE8A - NIFKP8 rs8040855-C 0.634 3 x 10-6 .035 [0.021-0.049] unit increase
08/07/13 " Eating disorders 543 European ancestry female cases, 1,116 European ancestry female controls NA 13q12.13 ATP8A2 ATP8A2 rs7322916-G intron 0.501 8 x 10-7 .089 [0.054-0.124] unit increase Illumina
[6,150,213] (Imputed)
N
1q21.3 FLG,FLG2,CRNN FLG-AS1 rs3120667-A intron 0.845 2 x 10-6 .118 [0.069-0.167] unit decrease
6p21.2 C6orf64,KCNK5 TRNAI25 rs2115200-T 0.768 2 x 10-6 .098 [0.057-0.139] unit increase
10p13 CAMK1D CAMK1D; LOC283070 rs10906233-C UTR-3;ncRNA 0.979 4 x 10-6 .288 [0.17-0.41] unit decrease
5q14.1 RASGRF2 RASGRF2 rs138206701-A intron 0.98 4 x 10-6 .425 [0.24-0.61] unit decrease
20p12.1 MACROD2 MACROD2 rs11087123-A intron 0.738 4 x 10-6 .12 [0.069-0.171] unit decrease
16p13.13 TEKT5,EMP2 EMP2 rs2221433-G intron 0.682 5 x 10-6 .087 [0.05-0.124] unit decrease
4q23 ADH7,C4orf17 ADH7 - C4orf17 rs148915469-C 0.979 8 x 10-6 .279 [0.16-0.4] unit decrease
08/07/13 " Eating disorders (purging via substances) 600 European ancestry female cases, 1,921 European ancestry female controls NA View full set of 11 SNPs Illumina
[6,150,213] (Imputed)
N
5q14.1 RASGRF2 RASGRF2 rs138206701-A intron 0.98 1 x 10-7 .327 [0.21-0.45] unit decrease
8q24.22 Intergenic MTND2P7 - ZFAT rs74566133-C 0.969 7 x 10-7 .249 [0.15-0.35] unit decrease
2q37.1 NCL,PTMA,PDE6D B3GNT7 - ZBTB8OSP2 rs12475512-G 0.543 7 x 10-7 .108 [0.065-0.151] unit increase
3p14.3 DNASE1L3,FLNB FLNB rs13077017-C intron 0.71 1 x 10-6 .073 [0.044-0.102] unit decrease
2q36.3 SPHKAP,CCL20 SNRPGP8 - CCL20 rs10175070-A 0.75 2 x 10-6 .124 [0.073-0.175] unit increase
3p12.3 Intergenic ROBO2 rs1516459-C intron 0.968 3 x 10-6 .27 [0.16-0.38] unit decrease
10q21.3 ATOH7 ATOH7 - KRT19P4 rs10998035-C 0.945 4 x 10-6 .151 [0.086-0.216] unit decrease
9q34.11 PKN3,SET,WDR34,ZDHHC12,ZER1 SH2D3C rs514024-A cds-synon 0.572 5 x 10-6 .061 [0.036-0.086] unit increase
8p23.2 CSMD1 CSMD1 rs142816172-C intron 0.976 6 x 10-6 .273 [0.16-0.39] unit decrease
2p16.1 Intergenic RNA5SP94 - MIR4432 rs145433814-G 0.976 6 x 10-6 .239 [0.14-0.34] unit decrease




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