Polygenic Risk Scores

Download lists of variants and weights comprising polygenic risk 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.
Nature Genetics. 2018. 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)

These polygenic risk 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: partnering@broadinstitute.org.

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

Download Summary Statistics

PubMed IDTitleDownload filesREADME files
Online in JAMAAssociation between titin loss-of-function variants and early-onset atrial fibrillation.Download filesREADME
Online in CirculationPhenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery.Download filesREADME
PMID:30220432Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.Download filesREADME
PMID:30012220Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.Download filesREADME
PMID:29892015Multi-ethnic genome-wide association study for atrial fibrillation.Download filesREADME
PMID:29748316Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.Download filesREADME
PMID:28794112Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.Download filesREADME
PMID:28416818Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.Download filesREADME

Genetic Association Datasets

The table below lists genetic association datasets incorporated into the Cardiovascular Disease Knowledge Portal. Filter by data type using the menu at the top, or click on the links to see more details about individual sets.

Filter Dataset Table (Click one to start)