CVDKP Downloads

Polygenic Scores

GWAS Summary Statistic Downloads

Other Data Downloads

Polygenic Scores

Download a list of variants and weights comprising a genome-wide polygenic score for body mass index and obesity, as described in:

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.
Khera AV, Chaffin M, et al.
Cell. 2019 Apr 18;177(3):587-596.e9. doi: 10.1016/j.cell.2019.03.028

Body mass index and obesity (89 MB)

Genome-wide polygenic scores are made freely available to the academic community for research use. Parties interested in using the scores for commercial purposes should contact the Broad Office of Strategic Alliances and Partnering or send an e-mail to:

Download lists of variants and weights comprising genome-wide polygenic scores for five complex diseases, as described in:

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Khera AV, Chaffin M, et al.
Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z

Atrial fibrillation (297.3 MB) | Breast cancer (253 KB) | Coronary artery disease (292.9 MB) | Inflammatory bowel disease (305.1 MB) | Type 2 diabetes (305.6 MB)

Genome-wide polygenic scores are made freely available to the academic community for research use. Parties interested in using the scores for commercial purposes should contact the Broad Office of Strategic Alliances and Partnering or send an e-mail to:

Download a list of SNPs (.txt file) comprising the polygenic risk score for lifetime risk of atrial fibrillation as developed in this study:

Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation
Weng LC, et al. Circulation. 2017 Nov 12. pii: CIRCULATIONAHA.117.031431. doi: 10.1161/CIRCULATIONAHA.117.031431


GWAS Summary Statistic Downloads

Dataset name in CVDKP Publication Phenotypes Download
PR interval 1000G GWAS Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction.
Ntalla I, Weng L-C, et al.

Nature Communications (2020) 11:2542 doi:10.1038/s41467-020-15706-x
ECG traits Summary statistics - all | README
Summary statistics - Europeans | README
UK Biobank Cardiac MRI LV GWAS Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
Pirruccello J, et al.

Nature Communications volume 11, Article number: 2254 (2020).
Cardiovascular Summary statistics for:
Left ventricular end-diastolic volume |
Left ventricular end-diastolic volume  (BSA-indexed) |
Left ventricular ejection fraction |
Left ventricular end-systolic volume |
Left ventricular end-systolic volume (BSA-indexed) |
Stroke volume |
Stroke volume (BSA-indexed) |
UK Biobank atrial fibrillation exome sequence analysis Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.
Choi SH, Jurgens SJ, et al.

Circ Res, 126 (2), 200-209 2020 Jan 17. doi: 10.1161/CIRCRESAHA.119.315686.
Atrial fibrillation Gene-level association scores | README
HERMES Heart Failure GWAS Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure.
Shah S, Henry A, et al.

Nat Commun. 2020 Jan 9;11(1):163. doi: 10.1038/s41467-019-13690-5.
Heart failure Summary statistics | README
Early-onset AF TOPMed WGS Association between titin loss-of-function variants and early-onset atrial fibrillation.
Choi SH, et al.

JAMA. 2018 Dec 11;320(22):2354-2364. doi:10.1001/jama.2018.18179.
Atrial fibrillation Summary statistics | README
UK Biobank Heart Failure GWAS Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery.
Aragam KG, et al.

Circulation. 2018 Nov 11. doi: 10.1161/CIRCULATIONAHA.118.035774.
Cardiovascular Summary statistics | README
Albuminuria GWAS Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.
Haas ME, et al.

Am J Hum Genet. 2018 Oct 4;103(4):461-473. doi: 10.1016/j.ajhg.2018.08.004.
Renal Summary statistics | README
2018 AF HRC GWAS Multi-ethnic genome-wide association study for atrial fibrillation.
Roselli C, et al.

Nat Genet. 2018 Sep;50(9):1225-1233. doi: 10.1038/s41588-018-0133-9.
Atrial fibrillation Summary statistics | README
QRS interval exome chip analysis 

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Prins BP, et al.
Genome Biol. 2018 Jul 17;19(1):87. doi: 10.1186/s13059-018-1457-6.
ECG traits Summary statistics | README
PR interval exome chip analysis 

Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.
Lin H, et al.
Circ Genom Precis Med. 2018 May;11(5):e002037. doi: 10.1161/CIRCGEN.117.002037.
ECG traits Summary statistics | README
GLGC exome chip analysis Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ, et al.
Nat Genet. 2017 Dec;49(12):1758-1766. doi: 10.1038/ng.3977.
Lipids Download site
DIAGRAM 1000G GWAS An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.
Scott RA, et al.

Diabetes. 2017 Nov;66(11):2888-2902. doi: 10.2337/db16-1253.
Glycemic Download site

Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.
Christophersen IE, et al.
Circ Cardiovasc Genet. 2017 Aug;10(4). pii: e001667. doi: 10.1161/CIRCGENETICS.116.001667.
ECG traits Summary statistics | README
2017 AFGen GWAS (subset of 2018 AF HRC GWAS) Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
Christophersen IE, et al.

Nat Genet. 2017 Jun;49(6):946-952. doi: 10.1038/ng.3843.
Atrial fibrillation Summary statistics | README
CKDGen 1000G GWAS 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
Gorski M, et al.

Sci Rep. 2017 Apr 28;7:45040. doi: 10.1038/srep45040.
Renal Download site
GIANT GWAS - stratified by physical activity Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
Graff M, et al.
PLoS Genet. 2017 Apr 27;13(4):e1006528. doi: 10.1371/journal.pgen.1006528.
Anthropometric Download site

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
Walford GA, et al.
Diabetes. 2016 Oct;65(10):3200-11. doi: 10.2337/db16-0199.
Glycemic Download site
gnomAD exomes Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, et al.
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
No phenotype Download site
gnomAD whole genomes Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, et al.
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
No phenotype Download site
CKDGen 1000G GWAS - stratified UACR associations Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Teumer A, et al.

Diabetes. 2016 Mar;65(3):803-17. doi: 10.2337/db15-1313.
Renal Download site
DIAGRAM Trans-ethnic meta-analysis Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ, et al.

Nat Genet. 2015 Dec;47(12):1415-25. doi: 10.1038/ng.3437.
Glycemic Download site
1000 Genomes A global reference for human genetic variation.
1000 Genomes Project Consortium, et al.

Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.
No phenotype Download site
CARDIoGRAMplusC4D GWAS A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Nikpay M, et al.

Nat Genet. 2015 Oct;47(10):1121-30. doi: 10.1038/ng.3396.
Cardiovascular Download site
GIANT Anthropometric 2015 Waist GWAS New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, et al.
Nature. 2015 Feb 12;518(7538):187-196. doi: 10.1038/nature14132.
Anthropometric Download site
GLGC GWAS Discovery and refinement of loci associated with lipid levels.
Willer CJ, et al.
Nat Genet. 2013 Nov;45(11):1274-83. doi: 10.1038/ng.2797.
Lipids Download site
GIANT GWAS FTO genotype is associated with phenotypic variability of body mass index.
Yang J, et al.
Nature. 2012 Oct 11;490(7419):267-72. doi: 10.1038/nature11401.
Anthropometric Download site
MAGIC Metabochip GWAS 

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Scott RA, et al.
Nat Genet. 2012 Sep;44(9):991-1005. doi: 10.1038/ng.2385.
Glycemic Download site
FinnGen GWAS 

Unpublished. Multiple Download site


Other Data Downloads

PubMed ID Title Download files README files
  ATAC-seq data from human adult left atrium/cardiomyocytes Download files README