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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

To view the PDF(s) on this page you will need Adobe Reader. Download Adobe Reader

 

 

 





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
11/14/13 Low SK
May 04, 2013
Cancer Sci
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil) 177 Japanese ancestry cases, 952 Japanese ancestry controls NA 7p21.3 LOC100505995 SCIN - ARL4A rs10488226-A 0.107 3 x 10-6 (Dominant model) 2.026 [1.50-2.737] Illumina
[733,202]
N
2q36.1 SERPINE2 SERPINE2 - FAM124B rs6740660-G 0.894 4 x 10-6 (Allelic model) 3.386 [1.87-6.131]
4p14 LOC651644 LOC101928667 rs1567482-G intron 0.875 6 x 10-6 (Allelic model) 2.846 [1.716-4.719]
2q32.3 OBFC2A MYO1B - NABP1 rs6706693-A 0.219 9 x 10-6 (Recessive model) 1.743 [1.362-2.232]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs) 184 Japanese ancestry cases, 459 Japanese ancestry controls NA 5q33.3 EBF1 EBF1 rs10040979-G intron 0.618 5 x 10-7 (Recessive model) 1.452 [1.12-1.883] Illumina
[733,202]
N
2q33.1 LOC348751 FTCDNL1 rs12615435-T intron 0.773 4 x 10-6 (Allelic model) 2.214 [1.555-3.154]
1p31.3 LOC100289178 WLS; GNG12-AS1 rs1367448-C intron;intron 0.526 5 x 10-6 (Dominant model) 1.554 [1.212-1.993]
6q16.1 MIR2113 MIR2113 - EIF4EBP2P3 rs2505059-G 0.398 5 x 10-6 (Allelic model) 1.765 [1.383-2.252]
12p13.31 TNFRSF1A TNFRSF1A rs4149639-C intron 0.047 7 x 10-6 (Allelic model) 2.763 [1.781-4.287]
19p12 LOC100421704 ZNF486 - BNIP3P17 rs1654260-A 0.488 8 x 10-6 (Allelic model) 1.749 [1.365-2.24]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs) 294 Japanese ancestry cases, 2,249 Japanese ancestry controls NA 18p11.31 LOC284215 DLGAP1-AS5 - PPIAP14 rs7228133-C 0.686 2 x 10-6 (Recessive model) 1.255 [1.034-1.522] Illumina
[733,202]
N
21q21.3 NCRNA00158 LINC00158 - MIR155HG rs8127977-A 0.722 2 x 10-6 (Dominant model) 1.587 [1.282-1.966]
12q13.13 HOXC13 CISTR - HOXC13-AS rs894734-G 0.776 4 x 10-6 (Dominant model) 1.619 [1.279-2.05]
13q12.11 LOC100506622 MTND3P1 - LINC00540 rs9580312-G 0.409 8 x 10-6 (Dominant model) 1.33 [1.12-1.581]
21q21.1 CHODL CHODL rs2055011-C intron 0.143 9 x 10-6 (Recessive model) 1.347 [1.075-1.686]
12q24.31 NCOR2 NCOR2 rs12582168-C intron 0.256 9 x 10-6 (Dominant model) 1.454 [1.21-1.748]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) 371 Japanese ancestry cases, 825 Japanese ancestry controls NA View full set of 12 SNPs Illumina
[733,202]
N
17p12 RICH2 ARHGAP44 rs11651483-C intron 0.665 3 x 10-7 (Recessive model) 1.357 [1.12-1.643]
13q31.3 GPC5 GPC5 rs4771859-G intron 0.709 1 x 10-6 (Recessive model) 1.328 [1.088-1.623]
6q14.1 LOC100131680 IMPG1 - HTR1B rs4235898-A 0.74 1 x 10-6 (Allelic model) 1.718 [1.377-2.142]
1q41 ESRRG ESRRG rs12145418-T intron 0.274 2 x 10-6 (Recessive model) 1.331 [1.104-1.604]
6q21 PRDM1 RPL35P3 - PRDM1 rs9386485-T 0.492 3 x 10-6 (Allelic model) 1.524 [1.279-1.817]
16q23.1 ADAMTS18 ADAMTS18 rs12935229-A cds-synon 0.182 4 x 10-6 (Recessive model) 1.495 [1.214-1.84]
7p21.1 LOC100131425 RAD17P1 - AHR rs6961860-G 0.495 5 x 10-6 (Recessive model) 1.283 [1.078-1.527]
14q31.3 LOC100421119 FLRT2 - GALC rs12882718-T 0.643 6 x 10-6 (Dominant model) 1.555 [1.283-1.884]
2q32.3 LOC391470 HNRNPA1P47 - AHCYP5 rs4591358-C 0.215 7 x 10-6 (Allelic model) 1.578 [1.297-1.92]
14q32.2 LOC100129345 LOC101929241 rs8022296-G intron 0.608 7 x 10-6 (Recessive model) 1.269 [1.058-1.521]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs) 428 Japanese ancestry cases, 743 Japanese ancestry controls NA 15q24.2 RPL36AP45 PPCDC - RPL36AP45 rs4886670-A 0.227 1 x 10-6 (Allelic model) 1.605 [1.330-1.937] Illumina
[733,202]
N
19q12 ZNF536 ZNF536 rs33428-G intron 0.403 3 x 10-6 (Dominant model) 1.375 [1.160-1.629]
14q11.2 TRA LOC101929755; LOC102724753 rs12589282-G intron;intron 0.437 4 x 10-6 (Recessive model) 1.48 [1.25-1.752]
3p14.1 LRIG1 LRIG1 rs3845905-G intron 0.85 4 x 10-6 (Allelic model) 1.894 [1.433-2.503]
5q35.1 FOXI1 FOXI1 - KRT18P41 rs1895302-C 0.478 7 x 10-6 (Dominant model) 1.34 [1.132-1.587]
1p36.12 ALPL ALPL rs16825455-T intron 0.605 9 x 10-6 (Dominant model) 1.425 [1.193-1.702]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors) 106 Japanese ancestry cases, 187 Japanese ancestry controls NA 5q21.2 RAB9P1 NUDT12 - RAB9BP1 rs10074959-T 0.237 1 x 10-6 (Recessive model) 1.524 [1.048-2.217] Illumina
[733,202]
N
7p21.3 TMEM106B THSD7A - TMEM106B rs1035147-T 0.877 4 x 10-6 (Allelic model) 7.294 [2.587-20.559]
1p21.3 LOC100129620 LOC100129620 rs303386-A intron 0.444 4 x 10-6 (Dominant) 1.766 [1.256-2.483]
5q21.2 RAB9P1 NUDT12 - RAB9BP1 rs1632744-T 0.258 5 x 10-6 (Recessive model) 1.387 [0.959-2.007]
3p26.1 GRM7 GRM7 rs480409-G intron 0.348 9 x 10-6 (Recessive model) 1.842 [1.307-2.596]
14q22.3 RPL13AP3 RPL13AP3 rs7494275-C nearGene-5 0.406 9 x 10-6 (Recessive model) 1.732 [1.232-2.433]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin) 59 Japanese ancestry cases, 155 Japanese ancestry controls NA 6p25.2 FAM50B PXDC1 - FAM50B rs17318866-G 0.79 1 x 10-6 (Allelic model) 7.559 [2.689-21.263] Illumina
[733,202]
N
2p22.1 LOC729984 SLC8A1 - HNRNPA1P57 rs17027130-C 0.387 3 x 10-6 (Allelic model) 2.865 [1.844-4.452]
1p21.3 LOC100129620 LOC100129620 rs303386-A intron 0.429 4 x 10-6 (Dominant model) 2.238 [1.448-3.46]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin) 261 Japanese ancestry cases, 262 Japanese ancestry controls NA 15q21.3 PRTG PRTG rs11071200-T intron 0.008 9 x 10-7 (Dominant model) 8.241 [2.888-23.520] Illumina
[733,202]
N
5p13.2 SPEF2 SPEF2 rs3822735-G intron 0.752 2 x 10-6 (Dominant model) 2.062 [1.500-2.834]
3p14.3 FLNB FLNB rs1623879-G intron 0.321 4 x 10-6 (Recessive model) 1.669 [1.297-2.148]
15q24.1 ULK3 ULK3 rs936229-G intron 0.595 4 x 10-6 (Dominant model) 1.685 [1.302-2.18]
13q12.11 CRYL1 CRYL1 rs7989332-G intron 0.738 5 x 10-6 (Allelic model) 2.056 [1.507-2.806]
3p14.1 LRIG1 LRIG1 rs3845905-G intron 0.828 6 x 10-6 (Allelic model) 2.433 [1.645-3.598]
8p23.2 CSMD1 CSMD1 rs1714746-G intron 0.435 7 x 10-6 (Recessive model) 1.61 [1.261-2.056]
1p13.3 AKNAD1 AKNAD1 rs1277203-A intron 0.626 9 x 10-6 (Recessive model) 1.615 [1.243-2.098]
16q23.3 CMIP PLCG2 rs12446319-A 0.143 9 x 10-6 (Allelic model) 2.026 [1.48-2.774]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) 176 Japanese ancestry cases, 471 Japanese ancestry controls NA 7p21.1 AGR2 AGR2 - AGR3 rs10253216-T 0.468 2 x 10-7 (Dominant model) 1.478 [1.155-1.891] Illumina
[733,202]
N
4q13.1 LOC644534 HMGN1P11 - EXOC5P1 rs11944965-T 0.678 2 x 10-6 (Dominant model) 1.986 [1.475-2.676]
18q23 ZNF236 ARL2BPP1 - ZNF236 rs2406342-T 0.475 2 x 10-6 (Dominant model) 1.697 [1.323-2.177]
20p12.3 SFRS13AP2 MIR8062 - SRSF10P2 rs6077251-T 0.153 3 x 10-6 (Allelic model) 2.065 [1.537-2.773]
8p21.1 SCARA5 SCARA5 rs11774576-A intron 0.581 3 x 10-6 (Dominant model) 1.699 [1.307-2.208]
11p15.1 PTPN5 PTPN5 - MRGPRX1 rs4627050-G 0.649 4 x 10-6 (Allelic model) 1.932 [1.452-2.572]
1p13.3 VAV3 VAV3 rs12142335-A intron 0.004 8 x 10-6 (Dominant model) 9.713 [3.175-29.71]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide) 168 Japanese ancestry cases, 335 Japanese ancestry controls NA 16p12.2 HS3ST2 HS3ST2 rs2519974-T intron 0.381 4 x 10-6 (Dominant model) 1.647 [1.264-2.146] Illumina
[733,202]
N
1q31.3 ATP6V1G3 NEK7 - ATP6V1G3 rs10922438-T 0.106 6 x 10-6 (Allelic model) 2.301 [1.608-3.293]
19p13.3 DENND1C DENND1C rs3745571-T intron 0.67 8 x 10-6 (Dominant model) 1.73 [1.276-2.345]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) 147 Japanese ancestry cases, 233 Japanese ancestry controls NA 9q33.2 DAB2IP DAB2IP rs3747851-T cds-synon 0.176 6 x 10-7 (Allelic model) 2.377 [1.693-3.339] Illumina
[733,202]
N
7q31.32 SLC13A1 SLC13A1 rs4727963-C intron 0.618 1 x 10-6 (Dominant model) 2.094 [1.505-2.914]
14q31.3 GALC FLRT2 - GALC rs1756650-G 0.162 2 x 10-6 (Recessive model) 1.386 [0.954-2.014]
13q33.2 LOC728192 LINC00344 - RNA5SP38 rs488248-T 0.795 3 x 10-6 (Allelic model) 2.896 [1.802-4.665]
6q22.33 ARHGAP18 ARHGAP18 rs12660691-A intron 0.819 4 x 10-6 (Allelic model) 3.199 [1.899-5.391]
18q22.1 LOC284294 LINC00305 - CDH7 rs4553720-T 0.281 7 x 10-6 (Recessive model) 1.547 [1.131-2.116]
2q21.1 LOC151121 ISCA1P6 - RPL22P7 rs837841-T 0.662 8 x 10-6 (Recessive model) 1.279 [0.930-1.759]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin) 83 Japanese ancestry cases, 66 Japanese ancestry controls NA 15q24.3 LOC100302666 LINGO1 - CSPG4P13 rs11857176-A 0.515 8 x 10-7 (Recessive model) 1.8 [1.127-2.874] Illumina
[733,202]
N
2p25.3 LOC339822 TMEM18 - LINC01115 rs4380275-G 0.152 5 x 10-6 (Recessive model) 3.604 [2.041-6.365]
11q14.2 ME3 LOC102724764 rs2512987-T intron 0.417 7 x 10-6 (Allelic model) 2.985 [1.855-4.803]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin) 83 Japanese ancestry cases, 370 Japanese ancestry controls NA 12p13.31 TNFRSF1A TNFRSF1A rs4149639-C intron 0.042 3 x 10-7 (Allelic model) 4.443 [2.571-7.677] Illumina
[733,202]
N
5p15.32 KIAA0947 LOC101929200 rs2964475-C intron 0.415 4 x 10-6 (Allelic model) 2.248 [1.592-3.174]
13q12.2 GSX1 NPM1P4 - GSX1 rs1923834-G 0.77 5 x 10-6 (Dominant model) 3.236 [1.823-5.744]
3q27.3 LOC100505844 BCL6 - LPP-AS2 rs1553091-G 0.358 7 x 10-6 (Recessive model) 1.48 [1.053-2.08]
10q26.13 LHPP NKX1-2 - LHPP rs908366-A 0.328 7 x 10-6 (Allelic model) 2.199 [1.564-3.092]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide) 54 Japanese ancestry cases, 39 Japanese ancestry controls NA 20p12.2 LOC100131208 SNAP25-AS1 rs6039763-A intron 0.09 2 x 10-6 (Dominant model) 5.966 [2.502-14.23] Illumina
[733,202]
N
1p33 LOC388630 ATP6V0E1P4 - TRABD2B rs2506991-G 0.269 2 x 10-6 (Recessive model) 3.948 [2.101-7.418]
2p16.3 FSHR MIR548BA - RPL7P13 rs12987465-A 0.359 7 x 10-6 (Recessive model) 2.597 [1.424-4.737]
7p21.1 MACC1 MACC1; LOC100506098 rs3095008-T intron;nearGene-5 0.846 9 x 10-6 (Dominant model) NR
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) 80 Japanese ancestry cases, 226 Japanese ancestry controls NA 18q23 LOC100421527 BDP1P - LINC01029 rs9961113-C 0.403 1 x 10-6 (Allelic model) 2.473 [1.706-3.584] Illumina
[733,202]
N
5q11.2 PDE4D PDE4D rs2547917-A intron 0.212 3 x 10-6 (Recessive model) 1.997 [1.345-2.965]
15q25.3 ALPK3 ALPK3 rs12900463-C UTR-3 0.115 4 x 10-6 (Recessive model) 2.154 [1.342-3.457]
22q12.2 OSBP2 OSBP2 rs9609078-T intron 0.009 4 x 10-6 (Allelic model) 10.89 [3.528-33.61]
5q35.2 HMP19 HMP19 - GAPDHP71 rs6863418-A 0.055 7 x 10-6 (Dominant model) 3.623 [2.042-6.429]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin) 150 Japanese ancestry cases, 166 Japanese ancestry controls NA 12q22 FGD6 FGD6 rs12310399-A intron 0.567 2 x 10-7 (Recessive model) 1.852 [1.329-2.58] Illumina
[733,202]
N
9q34.2 RXRA RNU6ATAC - RXRA rs10785877-T 0.66 7 x 10-7 (Allelic model) 2.58 [1.766-3.769]
19q12 LOC100420587 SLC25A1P5 - LINC00906 rs995834-C 0.425 1 x 10-6 (Dominant model) 1.871 [1.364-2.566]
1p22.2 LRRC8B LRRC8B rs922107-G intron 0.211 3 x 10-6 (Recessive model) 1.788 [1.25-2.558]
7p14.1 LOC442668 RPS10P14 - GPR141 rs1425132-T 0.666 5 x 10-6 (Recessive model) 1.43 [1.013-2.017]
22q12.3 APOL3 LOC102723507 rs1476029-A intron 0.015 8 x 10-6 (Allelic model) 6.426 [2.429-17.00]
1p36.21 RP1-21O18.1 KAZN rs6429703-T intron 0.078 8 x 10-6 (Allelic model) 2.942 [1.802-4.804]
11/14/13 " Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel) 218 Japanese ancestry cases, 364 Japanese controls NA 1p22.2 LRRC8B LRRC8B rs922106-T intron 0.202 9 x 10-7 (Recessive model) 1.679 [1.277-2.207] Illumina
[733,202]
N
6q21 PRDM1 RPL35P3 - PRDM1 rs9386485-T 0.477 1 x 10-6 (Allelic model) 1.821 [1.429-2.32]
8q22.2 MATN2 MATN2 rs2444896-T intron 0.603 2 x 10-6 (Dominant model) 1.754 [1.355-2.269]
2p24.1 RPS16P2 LAPTM4A - RPS16P2 rs4666360-C 0.114 3 x 10-6 (Dominant model) 2.136 [1.546-2.95]
9p13.3 SIT1 SIT1 rs3138083-A nearGene-3 0.117 4 x 10-6 (Allelic model) 2.136 [1.551-2.942]
17p13.1 GAS7 GAS7 rs3786094-C intron 0.422 6 x 10-6 (Recessive model) 1.531 [1.206-1.944]
15q24.2 RPL36AP45 PPCDC - RPL36AP45 rs4886670-A 0.229 7 x 10-6 (Allelic model) 1.835 [1.412-2.383]
5q35.1 ERGIC1 ERGIC1 rs792975-T intron 0.519 8 x 10-6 (Allelic model) 1.746 [1.366-2.232]




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