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A Catalog of Published Genome-Wide Association Studies

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A Catalog of Published Genome-Wide Association Studies

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits PDF file
Click here to read our recent Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

Go to the Catalog

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio

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The genome-wide association study (GWAS) publications listed here include only those attempting to assay at least 100,000 single nucleotide polymorphisms (SNPs) in the initial stage. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies focusing only on candidate genes are excluded from this catalog. 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).

SNP-trait associations listed here are limited to those with p-values < 1.0 x 10-5 (see full methods for additional details). Multipliers of powers of 10 in p-values are rounded to the nearest single digit; odds ratios and allele frequencies are rounded to two decimals. Standard errors are converted to 95 percent confidence intervals where applicable. Allele frequencies, p-values, and odds ratios derived from the largest sample size, typically a combined analysis (initial plus replication studies), are recorded below if reported; otherwise statistics from the initial study sample are recorded. For quantitative traits, information on % variance explained, SD increment, or unit difference is reported where available. Odds ratios < 1 in the original paper are converted to OR > 1 for the alternate allele. Where results from multiple genetic models are available, we prioritized effect sizes (OR's or beta-coefficients) as follows: 1) genotypic model, per-allele estimate; 2) genotypic model, heterozygote estimate, 3) allelic model, allelic estimate.

Gene regions corresponding to SNPs were identified from the UCSC Genome Browser. 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 GWAS Catalog:
Hindorff LA, Junkins HA, Hall PN, Mehta JP, 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 GWAS Catalog paper:
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, and Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA. [May 27, 2009.]

This table is best viewed with a screen resolution of 1280 x 1024 or higher.

Full Description of Methods
Tab Delimited Format: A tab delimited version of the GWAS catalog is generated daily and available for download, available here: Tab Delimited File. To save this file, use a .txt extension. This file can be opened in an Excel program. For a description of the file spreadsheet column headings, go to: Tab Delimited File Heading Descriptions.
GWAS Catalog 11-26-08: For an archived Excel spreadsheet of the catalog data restricted to the most statistically significant SNP associations that were not known at the time each study was published, go to: GWAS Catalog 11-26-08
List of Abbreviations Used on This Page
GWAS Catalog Related Resources

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

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Search By:

Journal:
First Author: (last name)
Disease/Trait:	(string search)	Expand your search by using the OR operator (returns results with either term), or narrow your search using the AND operator (returns results with both terms).
	or
	Multiple Diseases (hold Ctrl-key when selecting multiple entries)
Chromosomal Region: (e.g., "13q21.31")
Gene: (e.g., "LRP5")
SNP: (e.g., "rs20755555")
OR greater than:
p-Value threshold: Enter the exponent. For example, enter "5" for p<10^-5


As of 09/02/10, this table includes 626 publications and 3053 SNPs.

Date Added to Catalog (since 11/25/08)	First Author/Date/ Journal/Study	Disease/Trait	Initial Sample Size	Replication Sample Size	Region	Reported Gene(s)	Strongest SNP-Risk Allele	Risk Allele Frequency in Controls	P-value	OR or beta-coefficient and [95% CI]	Platform [SNPs passing QC]	CNV
11/03/09	Ganesh October 11, 2009 Nat Genet Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Hematocrit	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3 2p21 7q36.1 10q21.3 22q12.3 12q24.12 7q22.1 6p22.1	HBS1L, MYB PRKCE PRKAG2 HK1 TMPRSS6 SH2B3, ATXN2 TFR2 HFE	rs9483788-C rs10168349-C rs10224002-G rs16926246-T rs2413450-T rs11065987-G rs7385804-C rs1800562-A	NR NR NR NR NR NR NR NR	3 x 10^-15 4 x 10^-15 6 x 10^-15 1 x 10^-13 2 x 10^-13 1 x 10^-12 4 x 10^-10 2 x 10^-9	.22 [0.16-0.28] % increase .19 [0.14-0.23] % increase .2 [0.15-0.25] % increase .33 [0.24-0.42] % increase .17 [0.13-0.22] % decrease .17 [0.12-0.22] % decrease .15 [0.10-0.20] % decrease .31 [0.21-0.41] % increase	Affymetrix & Illumina [~2.5 million](imputed)	N
11/03/09	"	Hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	22q12.3 6p22.1 7q36.1 2p21 12q24.12 10q21.3 20q13.2	TMPRSS6 HFE PRKAG2 PRKCE TRAFD1 HK1 TSHZ2	rs855791-A rs1800562-A rs10224002-G rs10495928-G rs11065987-A rs16926246-T rs6013509-A	NR NR NR NR NR NR NR	3 x 10^-25 6 x 10^-19 3 x 10^-15 7 x 10^-13 1 x 10^-11 2 x 10^-11 1 x 10^-10	.09 [0.07-0.11] g/dl decrease .16 [0.13-0.20] g/dl increase .07 [0.05-0.09] g/dl increase .06 [0.05-0.08] g/dl increase .06 [0.04-0.08] g/dl increase .11 [0.08-0.14] g/dl increase .06 [0.05-0.08] g/dl decrease	Affymetrix & Illumina [~2.5 million](imputed)	N
11/03/09	"	Mean corpuscular hemoglobin	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3 6p22.2 22q12.3 6p21.1 6q24.1 9p24.1 3q29 19p13.13 16p13.3	HBS1L, MYB SLC17A3 TMPRSS6 CCND3, BYSL CITED2 RCL1 TFRC GCDH ITFG3	rs7776054-G rs1408272-G rs2413450-T rs9349205-A rs628751-C rs10758658-A rs11915082-A rs11085824-G rs1122794-A	NR NR NR NR NR NR NR NR NR	7 x 10^-69 4 x 10^-39 9 x 10^-34 8 x 10^-20 1 x 10^-17 2 x 10^-14 8 x 10^-13 1 x 10^-11 3 x 10^-10	.01 [0.009-0.0111] pg decrease .02 [0.01-0.02] pg decrease .01 [0.0005-0.007] pg decrease .01 [0.004-0.006] pg decrease 0 [0.003-0.005] pg decrease 0 [0.004-0.006] pg decrease 0 [0.003-0.005] pg increase 0 [0.003-0.005] pg decrease 0 [0.003-0.006] pg increase	Affymetrix & Illumina [~2.5 million](imputed)	N
11/03/09	"	Mean corpuscular volume	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3 6p22.1 22q12.3 6p21.1 6q24.1 9p24.1 22q13.33 4q12 2p16.1 3q29 7p12.2 16p13.3 19p13.13 7q22.1 10q11.21 6q21 14q23.3	HBS1L, MYB HFE TMPRSS6 CCND3, BYSL CITED2 RCL1 ECGF1 KIT BCL11A TFRC IKZF1 ITFG3 RTBDN TFR2 MARCH8 CD164 FNTB	rs4895441-G rs1800562-A rs2413450-T rs9349205-A rs643381-A rs10758658-A rs131794-A rs172629-G rs2540917-C rs9859260-C rs12718597-A rs7189020-T rs7255045-A rs7786877-G rs11239550-G rs9374080-C rs4466998-A	NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR	7 x 10^-86 1 x 10^-46 3 x 10^-41 1 x 10^-31 5 x 10^-25 3 x 10^-20 1 x 10^-15 1 x 10^-15 1 x 10^-14 8 x 10^-14 5 x 10^-13 2 x 10^-12 2 x 10^-12 3 x 10^-11 1 x 10^-10 4 x 10^-10 5 x 10^-8	.01 [0.007-0.009] fl decrease .01 [0.010-0.014] fl increase .01 [0.004-0.006] fl decrease .01 [0.004-0.006] fl decrease 0 [0.003-0.005] fl decrease 0 [0.003-0.005] fl decrease 0 [0.003-0.005] fl decrease 0 [0.003-0.006] fl decrease 0 [0.002-0.004] fl decrease 0 [0.002-0.004] fl increase 0 [0.002-0.004] fl increase 0 [0.002-0.004] fl decrease 0 [0.002-0.004] fl decrease 0 [0.002-0.004] fl increase 0 [0.002-0.003] fl decrease 0 [0.002-0.003] fl decrease 0 [0.001-0.003] fl increase	Affymetrix & Illumina [~2.5 million](imputed)	N
11/03/09	"	Other erythrocyte phenotypes	24,167 European ancestry individuals	9,456 European ancestry individuals	6q23.3 6q23.3 1q23.1 7q22.1	HBS1L, MYB HBS1L, MYB SPTA1 EPO	rs9483788-G rs9373124-C rs857721-A rs2075671-A	NR NR NR NR	1 x 10^-47 (RBC) 7 x 10^-14 (MCHC) 1 x 10^-10 (MCHC) 1 x 10^-9 (RBC)	0 [0.012-0.016] 1 M cells/mm^3 increase 0 [0.002-0.003] g/dl decrease 0 [0.001-0.002] g/dl decrease 0 [0.005-0.009] 1 M cell/mm^3 increase	Affymetrix & Illumina [~2.5 million](imputed)	N

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Last Updated: September 02, 2010