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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
04/04/13 Luykx JJ
January 15, 2013
Mol Psychiatry
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
Metabolite levels (5-HIAA) up to 398 European ancestry individuals NA View full set of 13 SNPs Illumina
[5,767,231] (Imputed)
N
11q24.3 TP53AIP1, ARHGAP32, 5S_rRNA TP53AIP1 - ARHGAP32 rs11221522-A NR 5 x 10-7 .2412 unit decrease
2p22.3 Intergenic SLC25A5P2 - MIR548AD rs13402855-C NR 2 x 10-6 .2262 unit increase
17p13.3 SRR, SMG6, AJ276246 SMG6 rs11078884-C intron NR 3 x 10-6 .2234 unit increase
13q31.3 Intergenic BRK1P2 - LINC00380 rs61970269-T NR 3 x 10-6 .2234 unit increase
8p23.2 Intergenic RSL24D1P7 - RPL23AP54 rs77265424-G NR 4 x 10-6 .2223 unit increase
1q32.3 Intergenic RPL31P13 - PROX1-AS1 rs4655303-T NR 5 x 10-6 .2187 unit increase
9q21.13 PCSK5 PCSK5 rs7047865-G intron NR 5 x 10-6 .2188 unit increase
6q27 KIF25, HGC6.3, HGC6.1.1, MLLT4 HGC6.3 - KIF25-AS1 rs2843012-A NR 6 x 10-6 .218 unit increase
8q24.13 Intergenic HAS2-AS1 - MRPS36P3 rs279612-G NR 7 x 10-6 .2138 unit decrease
8p23.2 Intergenic RPL23AP54 - MCPH1 rs6559140-A NR 7 x 10-6 .2159 unit decrease
04/04/13 " Metabolite levels (5-HIAA/ MHPG Ratio) up to 398 European ancestry individuals NA View full set of 11 SNPs Illumina
[5,767,231] (Imputed)
N
14q21.1 SSTR1, CLEC14A SSTR1 - CLEC14A rs11622412-T 5 x 10-8 .323 unit increase
11q23.3 Intergenic CADM1 - FTLP7 rs7483296-T 8 x 10-7 .2927 unit increase
9p22.3 Intergenic RNU6-14P - C9orf92 rs79156074-T 2 x 10-6 .2824 unit increase
Xp21.3 Intergenic MAGEB5 - VENTXP1 rs6526555-C 5 x 10-6 .2804 unit increase
6p21.1 CCND3 CCND3 rs9357377-A intron 5 x 10-6 .2747 unit increase
3p12.3 ROBO2 ROBO2 rs73114594-A intron 7 x 10-6 .272 unit increase
Xq24 Intergenic SETP8 - KLHL13 rs5910235-G 7 x 10-6 .2785 unit increase
10q26.2 ADAM12 ADAM12 rs1278329-G intron 8 x 10-6 .2671 unit decrease
18p11.22 PIEZO2 PIEZO2 rs2865126-A intron 8 x 10-6 .2663 unit increase
2q36.3 COL4A3, BC035052, AK056332 COL4A3; LOC654841 rs35212277-A intron;intron 9 x 10-6 .2664 unit increase
04/04/13 " Metabolite levels (HVA) up to 398 European ancestry individuals NA View full set of 13 SNPs Illumina
[5,767,231] (Imputed)
N
21q21.3 Intergenic CYYR1 - ADAMTS1 rs2830487-A NR 2 x 10-7 .2543 unit increase
4q22.1 FAM190A CCSER1 rs187200046-T intron NR 2 x 10-6 .2366 unit increase
2p23.3 U6, RAB10 LOC102723485 rs68184094-A intron NR 2 x 10-6 .2363 unit increase
2p23.3 CCDC164, OTOF DRC1 rs3795958-G missense NR 2 x 10-6 .2394 unit increase
3p25.3 VGLL4 VGLL4 rs6802119-C intron NR 2 x 10-6 .2341 unit decrease
3p24.1 Intergenic MESTP4 - RBMS3-AS3 rs4680719-A NR 3 x 10-6 .2301 unit increase
21q22.2 ERG SPATA20P1 - ERG rs2836326-G NR 3 x 10-6 .2311 unit decrease
8p12 KIF13B KIF13B rs2954793-T intron NR 3 x 10-6 .2305 unit increase
6q16.1 Intergenic RPL5P19 - ATF1P1 rs13207034-A NR 4 x 10-6 .2275 unit decrease
9q33.3 GARNL3, SLC2A8 GARNL3 rs7029536-T intron NR 5 x 10-6 .2261 unit decrease
04/04/13 " Metabolite levels (HVA-5-HIAA Factor score) up to 398 European ancestry individuals NA View full set of 12 SNPs Illumina
[5,767,231] (Imputed)
N
21q21.3 Intergenic CYYR1 - ADAMTS1 rs2830487-A 5 x 10-7 .2494 unit increase
6q16.1 Intergenic RPL5P19 - ATF1P1 rs13207034-A 1 x 10-6 .2425 unit decrease
8p12 KIF13B, AF086219 KIF13B rs13251954-A intron 2 x 10-6 .2357 unit decrease
2p23.3 U6, RAB10 LOC102723485 rs68184094-A intron 4 x 10-6 .2298 unit increase
4q22.1 FAM190A CCSER1 rs187200046-T intron 4 x 10-6 .2293 unit increase
22q12.3 Intergenic LOC101926957 rs9619497-A intron 5 x 10-6 .2273 unit increase
8q22.1 C8orf38 MIR3150A - PLEKHF2 rs4590408-G 6 x 10-6 .2255 unit increase
1q41 Intergenic DUSP10 - QRSL1P2 rs10863681-G 6 x 10-6 .2262 unit increase
20q12 Intergenic MAFB - RNA5SP484 rs4812466-T 6 x 10-6 .2258 unit increase
8q13.3 NCOA2 NCOA2 rs72663955-G intron 6 x 10-6 .2246 unit increase
04/04/13 " Metabolite levels (HVA/5-HIAA ratio) up to 398 European ancestry individuals NA 12q13.11 Intergenic MIR4494 - RPAP3 rs1881744-A 2 x 10-6 .228 unit increase Illumina
[5,767,231] (Imputed)
N
12q23.1 ANKS1B ANKS1B rs1961649-T intron 3 x 10-6 .2234 unit increase
6q25.1 ULBP3 PHBP1 - ULBP3 rs78546022-G 4 x 10-6 .2221 unit increase
11p13 RCN1, DKFZp686K1684 DKFZp686K1684 rs11031492-G intron 4 x 10-6 .2196 unit increase
3p14.2 PTPRG, ID2B PTPRG rs35593266-A intron 5 x 10-6 .2196 unit increase
16p13.3 TRAP1, CREBBP TRAP1 rs56240109-G nearGene-5 5 x 10-6 .219 unit increase
3q21.2 Intergenic LOC101927056 rs71327718-G intron 7 x 10-6 .2152 unit increase
9q34.11 BC037833 LINC00963 - NTMT1 rs73628692-T 7 x 10-6 .2144 unit increase
5p13.2 Intergenic PRLR - SPEF2 rs284737-C 8 x 10-6 .2134 unit decrease
04/04/13 " Metabolite levels (HVA/MHPG ratio) up to 398 European ancestry individuals NA View full set of 25 SNPs Illumina
[5,767,231] (Imputed)
N
11q23.3 Intergenic CADM1 - FTLP7 rs7483296-T 5 x 10-7 .3152 unit increase
Xp21.2 Intergenic PIGFP3 - MAGEB2 rs6628506-A 1 x 10-6 .3338 unit increase
13q12.3 Intergenic ANKRD26P4 - RXFP2 rs1902272-C 1 x 10-6 .3074 unit increase
7p14.3 Intergenic SNX2P2 - SLC25A5P5 rs62458065-T 1 x 10-6 .3067 unit increase
4q34.3 Intergenic RNA5SP173 - LINC00290 rs17834666-A 1 x 10-6 .307 unit increase
14q32.11 BX247991, EFCAB11 EFCAB11 rs8021963-C intron 2 x 10-6 .3002 unit increase
2p23.3 U6, RAB10 UQCRHP2 - TRMT112P6 rs112288323-T 2 x 10-6 .302 unit increase
15q23 SENP8, NR2E3, MYO9A, GRAMD2 MYO9A rs12050794-G intron 2 x 10-6 .2996 unit decrease
5p15.2 Intergenic TAS2R1 - FAM173B rs2009501-C 2 x 10-6 .2964 unit decrease
8p23.2 Intergenic RPL23AP54 - MCPH1 rs62494762-C 2 x 10-6 .3065 unit increase
04/04/13 " Metabolite levels (MHPG) up to 398 European ancestry individuals NA View full set of 20 SNPs Illumina
[5,767,231] (Imputed)
N
12q24.11 GIT2, TCHP, ANKRD13A GIT2 rs4766646-T intron 4 x 10-7 .3211 unit increase
20q13.33 AK309218 MIR646 - MTCO2P1 rs55681231-A 7 x 10-7 .3144 unit increase
4p15.33 Intergenic RNA5SP156 - HSP90AB2P rs187075894-C 8 x 10-7 .3145 unit increase
3q26.31 NAALADL2, MIR4789 NAALADL2 rs62287976-T intron 1 x 10-6 .3082 unit increase
6q13 AF086303 LOC101928516 rs72960926-A intron 2 x 10-6 .3084 unit increase
10q26.2 C10orf90 C10orf90 - DOCK1 rs11245052-A 2 x 10-6 .3034 unit decrease
11p12 Intergenic RPL7AP56 - RPL18P8 rs5004866-T 2 x 10-6 .3029 unit decrease
2q35 DIRC3 DIRC3 rs11689435-T intron 4 x 10-6 .2941 unit increase
1p36.31 AK125078 MIR4417 - MIR4689 rs4845812-T 5 x 10-6 .2917 unit decrease
10q26.11 Intergenic EMX2 - RAB11FIP2 rs1925265-G 5 x 10-6 .2912 unit decrease




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