Polygenic Score (PGS) ID: PGS003332

Predicted Trait
Reported Trait Venous thromboembolism
Mapped Trait(s) venous thromboembolism (EFO_0004286)
Released in PGS Catalog: Jan. 24, 2023
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Score Details

Score Construction
Development Method
Parameters auto
Original Genome Build hg19
Number of Variants 1,092,045
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000398
Citation (link to publication) Ghouse J et al. Nat Genet (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
1,064,421 individuals (100%)
PGS Evaluation
European: 50%
Multi-ancestry (including European): 50%
  • European
  • African
  • Additional Asian Ancestries
  • Not Reported
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
  • 57,467 cases
  • , 1,006,954 controls
(Icelandic, American, Danish and Finnish)

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM016143 PSS010047|
European Ancestry|
436,440 individuals
PGP000398 |
Ghouse J et al. Nat Genet (2023)
Reported Trait: Prevalent VTE OR: 1.51 AUROC: 0.664 [0.659, 0.669] age, sex, 4 PCs
PPM020880 PSS011439|
Multi-ancestry (including European)|
70,406 individuals
PGP000597 |
Shi Z et al. Thromb Res (2023)
Reported Trait: Incident cancer-associated thrombosis Hazard ratio (HR, top PRS decile vs rest): 1.75 [1.62, 1.88] Age, gender, BMI and 10 PCs

Evaluated Samples

PGS Sample Set ID
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
  • 23,723 cases
  • , 412,717 controls
European UKB
PSS011439 68,709 individuals,
52.59 % Male samples
Mean = 60.42 years
Ci = [60.37, 60.48] years
European UKB
PSS011439 105 individuals,
52.38 % Male samples
Mean = 55.61 years
Ci = [54.11, 57.11] years
African unspecified UKB
PSS011439 730 individuals,
49.18 % Male samples
Mean = 57.46 years
Ci = [56.89, 58.03] years
Asian unspecified UKB
PSS011439 862 individuals,
51.86 % Male samples
Mean = 57.82 years
Ci = [57.28, 58.36] years
Not reported UKB