Trait: venous thromboembolism

Information

Experimental Factor Ontology ID: EFO_0004286

EFO Trait Description: Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. [NCIT: C99537]

Associated PGS

PGS 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 (PPM) ID Evaluated Score PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000102 PGS000043 (PRS_VTE) PSS000066 Klarin D et al. (2019) Reported Trait: Venous thromboembolism OR (top 5% of individuals with the highest PRS_VTE relative to the rest of the population): 2.89 [2.52 - 3.3] age, sex, 5 PCs of ancestry
PPM000103 PGS000043 (PRS_VTE) PSS000067 Klarin D et al. (2019) Reported Trait: Venous thromboembolism HR (top 5% of individuals with the highest PRS_VTE relative to the rest of the population): 2.51 [1.97 - 3.19] age, 10 PCs of ancestry, hormone therapy intervention status

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000066 VTE was defined in the MVP cohort using the following diagnosis codes for: - Deep Venous Thrombosis ICD-10 codes: {I80.1, I80.2, I82.22, I82.4, I82.5} and ICD-9 codes: {451.11, 451.19, 453.2, 453.4} - Pulmonary Embolism ICD-10 codes: {I26.0, I26.9} and ICD-9 code {415.1} 55,965 individuals
[ 2,100 cases, 53,865 controls]
European MVP MVP Cohort = 3.0
PSS000067 10,975 individuals
[ 690 cases, 10,285 controls]
0.00 %% Male samples
European WHI, WHI-GARNET, WHI-HT, WHI-LLS, WHI-MS