Polygenic Score (PGS) ID: PGS012527

Predicted Trait
Reported Trait Venous thromboembolism
Mapped Trait(s) venous thromboembolism (MONDO_0005399)
Additional Trait Information cardiovascular outcome representing venous thromboembolism (VTE), including deep vein thrombosis and pulmonary embolism. Summary statistics used for polygenic score development were obtained from a multi-ethnic genome-wide association study conducted in the Million Veteran Program (PMID: 31676865).
Released in PGS Catalog: June 17, 2026
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Score Details

Score Construction
PGS Name VTE_LD
Development Method
Name LDpred
Parameters Polygenic score constructed using clumping and thresholding (LDpred) with genome-wide significant variants derived from MVP GWAS summary statistics
Variants
Original Genome Build GRCh38
Number of Variants 516,802
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000786
Citation (link to publication) Huang YJ et al. Nat Commun (2026)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 88.7%
African: 7.9%
Hispanic or Latin American: 3.4%
650,119 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • African
  • Hispanic or Latin American
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST009097
Europe PMC: 31676865
51,661 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST009097
Europe PMC: 31676865
21,868 individuals Hispanic or Latin American NR
GWAS Catalog: GCST009097
Europe PMC: 31676865
576,590 individuals European NR

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM030611 PSS012201|
Multi-ancestry (including European)|
9,115 individuals
PGP000786 |
Huang YJ et al. Nat Commun (2026)
Reported Trait: Venous thromboembolism risk β: 0.162 (0.028) sex, age, age^2, BMI, 11 genetic PCs Effect estimate corresponds to PRS per SD adjusted for genetic PCs.
PPM030612 PSS012201|
Multi-ancestry (including European)|
9,115 individuals
PGP000786 |
Huang YJ et al. Nat Commun (2026)
Reported Trait: Venous thromboembolism risk β: 0.163 (0.028) sex, age, age^2, BMI, global ancestry proportions Effect estimate corresponds to PRS per SD adjusted for global ancestry proportions.
PPM030613 PSS012201|
Multi-ancestry (including European)|
9,115 individuals
PGP000786 |
Huang YJ et al. Nat Commun (2026)
Reported Trait: Venous thromboembolism risk β: 0.161 (0.028) sex, age, age^2, BMI, global ePRS Effect estimate corresponds to residual PRS (rPRS) adjusted for global expected PRS (gePRS).

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012201 1,520 individuals African American or Afro-Caribbean OOA
PSS012201 113 individuals Hispanic or Latin American OOA
PSS012201 7,482 individuals European OOA