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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
12/18/14 Kemp JP
June 19, 2014
PLoS Genet
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
Bone mineral density (paediatric, lower limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 11 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 WNT16, FAM3C, CPED1 WNT16 rs2908004-A missense 0.47 3 x 10-11 .1 [0.071-0.129] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron 0.82 1 x 10-10 .13 [0.091-0.169] unit increase
7q31.31 WNT16, FAM3C, CPED1 WNT16 rs2908004-A missense NR 1 x 10-9 (EA) .1039 [0.07-0.138] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron NR 2 x 10-9 (EA) .1351 [0.091-0.179] unit increase
9q34.11 FUBP3 FUBP3 rs7466269-A intron 0.65 2 x 10-8 .087 [0.058-0.116] unit increase
12p11.22 KLHDC5, PTHLH KLHL42 - PTHLH rs4420311-G 0.46 3 x 10-8 .086 [0.055-0.117] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron 0.78 3 x 10-8 .097 [0.062-0.132] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron NR 6 x 10-8 (EA) .1071 [0.068-0.146] unit increase
12p11.22 KLHDC5, PTHLH KLHL42 - PTHLH rs4420311-G NR 1 x 10-7 (EA) .0921 [0.058-0.126] unit increase
2q24.3 GALNT3 CSRNP3 - GALNT3 rs1346004-A 0.5 5 x 10-7 .08 unit decrease
12/18/14 " Bone mineral density (paediatric, skull) 7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 19 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 WNT16, FAM3C, CPED1 CPED1 rs13223036-T intron 0.64 2 x 10-28 .169 [0.14-0.2] unit increase
7q31.31 WNT16, FAM3C, CPED1 CPED1 rs13223036-T intron NR 3 x 10-22 (EA) .1652 [0.13-0.2] unit increase
11p14.1 LIN7C, LGR4 RPL37AP7 rs10835187-C 0.47 2 x 10-17 .127 [0.098-0.156] unit increase
6q23.2 EYA4 RPL23AP46 - LINC00326 rs3012465-G 0.67 8 x 10-17 .127 [0.098-0.156] unit increase
11p14.1 LIN7C, LGR4 RPL37AP7 rs10835187-C NR 3 x 10-13 (EA) .1245 [0.091-0.158] unit increase
6q23.2 EYA4 RPL23AP46 - LINC00326 rs3012465-G NR 2 x 10-12 (EA) .1215 [0.088-0.155] unit increase
1p36.12 WNT4 WNT4 - MIR4418 rs3920498-G 0.8 2 x 10-12 .134 [0.097-0.171] unit increase
8q24.12 TNFRSF11B, COLEC10 COLEC10 rs2450083-T intron 0.47 2 x 10-11 .102 [0.073-0.131] unit increase
6q22.32 CENPW, RSPO3 MIR588 - VIMP1 rs2130604-T 0.24 3 x 10-11 .112 [0.079-0.145] unit increase
6q22.32 CENPW, RSPO3 MIR588 - VIMP1 rs2130604-T NR 4 x 10-11 (EA) .1291 [0.091-0.167] unit increase
12/18/14 " Bone mineral density (paediatric, total body less head) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 15 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 WNT16, FAM3C, CPED1 FAM3C rs7776725-C intron 0.27 6 x 10-20 .159 [0.13-0.19] unit increase
7q31.31 WNT16, FAM3C, CPED1 FAM3C rs7776725-C intron NR 2 x 10-15 (EA) .1582 [0.12-0.2] unit increase
2q24.3 GALNT3 CSRNP3 - GALNT3 rs6726821-T 0.54 4 x 10-10 .091 [0.062-0.120] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron 0.78 7 x 10-10 .107 [0.074-0.140] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron 0.82 3 x 10-9 .12 [0.081-0.159] unit increase
1p36.12 WNT4 WNT4 rs3765350-A intron NR 4 x 10-9 (EA) .1159 [0.077-0.155] unit increase
13q14.11 TNFSF11 TNFSF11 rs17536328-T intron 0.42 8 x 10-9 .086 [0.057-0.115] unit increase
9q34.11 FUBP3 FUBP3 rs7466269-A intron 0.65 3 x 10-8 .084 [0.055-0.113] unit increase
12p11.22 KLHDC5, PTHLH KLHL42 - PTHLH rs4420311-G 0.46 4 x 10-8 .085 [0.054-0.116] unit increase
14q32.12 RIN3 RIN3 rs754388-C intron NR 5 x 10-8 (EA) .1219 [0.078-0.166] unit increase
12/18/14 " Bone mineral density (paediatric, upper limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA View full set of 11 SNPs Illumina
[~2.5 Million] (imputed)
N
7q31.31 CPED1, WNT16, FAM3C CPED1 rs798943-G intron 0.61 1 x 10-37 .195 [0.17-0.22] unit increase
7q31.31 CPED1, WNT16, FAM3C CPED1 rs798943-G intron NR 3 x 10-32 (EA) .2016 [0.17-0.24] unit increase
6q22.32 CENPW, RSPO3 PRELID1P1 - RPS4XP9 rs1262476-G 0.77 3 x 10-9 .104 [0.069-0.139] unit increase
13q14.11 TNFSF11 FABP3P2 - TNFSF11 rs9525638-C 0.42 3 x 10-9 .089 [0.060-0.118] unit increase
1p36.12 WNT4 WNT4 rs2235529-C intron 0.85 1 x 10-8 .117 [0.076-0.158] unit increase
2q24.3 GALNT3 CSRNP3 - GALNT3 rs6726821-T 0.54 1 x 10-8 .083 [0.054-0.112] unit increase
13q14.11 TNFSF11 FABP3P2 - TNFSF11 rs9525638-C NR 2 x 10-8 (EA) .0949 [0.062-0.128] unit increase
6q22.32 CENPW, RSPO3 PRELID1P1 - RPS4XP9 rs1262476-G NR 4 x 10-8 (EA) .1045 [0.067-0.142] unit increase
1p36.12 WNT4 WNT4 rs2235529-C intron NR 3 x 10-7 (EA) .1173 [0.072-0.162] unit increase
13q14.11 TNFSF11 TNFSF11 rs2148072-G intron 0.63 2 x 10-6 (Conditional) .0723 [0.043-0.102] unit increase




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