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
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An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
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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
An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
03/26/14 |
Chung S September 11, 2013 Breast Cancer Res A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
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Adverse response to chemotherapy in breast cancer (alopecia) |
303 Japanese ancestry cases, 880 Japanese ancestry controls |
23 Japanese ancestry cases |
2q23.3 |
CACNB4 |
CACNB4 |
rs3820706-G |
nearGene-5 |
0.57 |
2 x 10-9 (Recessive) |
2.38 [1.44-3.93] |
Illumina [555,600] |
N |
2q23.3 |
STAM2 |
STAM2 |
rs16830728-T |
intron |
0.59 |
3 x 10-8 (Recessive) |
3.61 [2.17-5.98] |
10q21.1 |
PCDH15 |
PCDH15 |
rs7476422-G |
intron |
0.82 |
3 x 10-7 (Allelic) |
2.06 [1.54-2.75] |
03/26/14 |
"
|
Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) |
119 Japanese ancestry cases, 105 Japanese ancestry controls |
NA |
9q31.2 |
ZNF462 |
ZNF462 |
rs1858231-C |
intron |
0.22 |
2 x 10-6 (Allelic) |
2.71 [1.79-4.12] |
Illumina [555,600] |
N |
11q14.2 |
ME3 |
ME3 |
rs1870323-T |
intron |
0.64 |
2 x 10-6 (Allelic) |
2.92 [1.87-4.57] |
15q25.3 |
KLHL25 |
MIR548AP - RNA5SP400 |
rs4262906-C |
|
0.35 |
3 x 10-6 (Allelic) |
2.5 [1.71-3.67] |
5q14.3 |
RPL10AP9 |
MIR3607 - RPL10AP9 |
rs2471042-T |
|
0.21 |
5 x 10-6 (Dominant) |
2.51 [1.64-3.81] |
10p14 |
LOC100507143 |
LINC00708 - KRT8P37 |
rs11255615-G |
|
0.38 |
5 x 10-6 (Allelic) |
2.4 [1.65-3.53] |
5q14.3 |
RPL10AP9 |
MIR3607 - RPL10AP9 |
rs1493354-T |
|
0.22 |
9 x 10-6 (Dominant) |
2.37 [1.56-3.6] |
18q21.33 |
SERPINB5 |
ATP5G1P6 - SERPINB12 |
rs2032224-A |
|
0.62 |
9 x 10-6 (Recessive) |
2.16 [1.42-3.27] |
03/27/14 |
"
|
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) |
64 Japanese ancestry cases, 27 Japanese ancestry controls |
NA |
1q21.2 |
BCL9 |
BCL9 |
rs594206-A |
intron |
0.78 |
6 x 10-7 (Dominant) |
36.3 [4.58-287] |
Illumina [555,600] |
N |
9p24.2 |
SMARCA2 |
SMARCA2 - VLDLR-AS1 |
rs6475600-C |
|
0.63 |
2 x 10-6 (Allelic) |
7.78 3.25-18.6] |
1p31.1 |
CTH |
CTH |
rs672203-A |
intron |
0.52 |
2 x 10-6 (Dominant) |
5.33 [2.59-11.0] |
4p15.31 |
LCORL |
KRT18P63 - RPL21P46 |
rs6845621-C |
|
0.20 |
2 x 10-6 (Allelic) |
5.53 [2.61-11.7] |
9q33.3 |
DENND1A |
PIGFP2 - LHX2 |
rs10818894-G |
|
0.70 |
2 x 10-6 (Dominant) |
10.4 [3.56-30.1] |
8p23.2 |
LOC100129861 |
PAICSP4 - RSL24D1P7 |
rs10112481-A |
|
0.22 |
4 x 10-6 (Allelic) |
5.12 [2.46-10.6] |
18q22.1 |
CDH7 |
LINC00305 - CDH7 |
rs637644-G |
|
0.80 |
7 x 10-6 (Allelic) |
32.5 [4.08-259] |
16q23.3 |
CDH13 |
CDH13 |
rs11644424-T |
intron |
0.44 |
8 x 10-6 (Dominant) |
3.32 [1.71-6.44] |
03/26/14 |
"
|
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) |
116 Japanese ancestry cases, 108 Japanese ancestry controls |
NA |
13q12.3 |
ALOX5AP |
ALOX5AP |
rs3885907-G |
intron |
0.18 |
1 x 10-6 (Dominant) |
2.66 [1.71-4.13] |
Illumina [555,600] |
N |
1p21.3 |
LOC100130235 |
LOC102723542 |
rs4474258-A |
nearGene-3 |
0.43 |
5 x 10-6 (Recessive) |
1.89 [1.29-2.75] |
10p13 |
PRPF18 |
PRPF18 |
rs7089227-G |
intron |
0.41 |
7 x 10-6 (Dominant) |
1.99 [1.37-2.90] |
03/26/14 |
"
|
Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel) |
62 Japanese ancestry cases, 42 Japanese ancestry controls |
NA |
15q25.3 |
KLHL25 |
MIR548AP - RNA5SP400 |
rs4262906-C |
|
0.31 |
7 x 10-7 (Allelic) |
4.36 [2.41-7.89] |
Illumina [555,600] |
N |
3q21.3 |
C3orf56 |
C3orf56 - TPRA1 |
rs4234284-T |
|
0.23 |
3 x 10-6 (Dominant) |
3.01 [1.62-5.6] |
20p13 |
C20orf54 |
SLC52A3 - FAM110A |
rs6117615-C |
|
0.24 |
7 x 10-6 (Dominant) |
3.89 [2.1-7.18] |
1p32.2 |
LOC100507652 |
GOT2P1 - RPSAP20 |
rs10443215-C |
|
0.04 |
9 x 10-6 (Allelic) |
9.39 [2.77-31.8] |
03/26/14 |
"
|
Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) |
57 Japanese ancestry cases, 63 Japanese ancestry controls |
NA |
12q24.32 |
TMEM132C |
TMEM132C |
rs11059635-G |
intron |
0.67 |
2 x 10-7 (Dominant) |
6.63 [2.95-14.9] |
Illumina [555,600] |
N |
16q23.3 |
CDH13 |
MPHOSPH6 - CDH13 |
rs3844412-A |
|
0.11 |
4 x 10-7 (Dominant) |
5.22 [2.67-10.2] |
5p15.2 |
TRIO |
DNAH5 - TRIO |
rs163818-C |
|
0.02 |
6 x 10-7 (Dominant) |
11.5 [3.37-39.3] |
2p21 |
C2orf34 |
CAMKMT |
rs698813-C |
intron |
0.52 |
1 x 10-6 (Allelic) |
4.27 [2.35-7.76] |
21q22.3 |
NCRNA00111 |
TMPRSS2 - LINC00111 |
rs2838088-A |
|
0.12 |
1 x 10-6 (Dominant) |
4.48 [2.32-8.66] |
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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015