Polygenic Score (PGS) ID: PGS004715

Predicted Trait
Reported Trait Alanine aminotransferase
Mapped Trait(s) serum alanine aminotransferase measurement (EFO_0004735)
Released in PGS Catalog: March 28, 2024
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Score Details

Score Construction
PGS Name ALT_PRSmix_eur
Development Method
Name PRSmix
Parameters power=0.95; p=0.05
Variants
Original Genome Build hg38
Number of Variants 559,731
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000604
Citation (link to publication) Truong B et al. Cell Genom (2024)
Ancestry Distribution
Score Development/Training
European: 100%
20,988 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
20,988 individuals European AllofUs

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
PPM020940 PSS011457|
European Ancestry|
5,247 individuals
PGP000604 |
Truong B et al. Cell Genom (2024)
Reported Trait: Alanine aminotransferase Incremental R2 (Full model versus model with only covariates): 0.013 [0.007, 0.019] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)

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
PSS011457 5,247 individuals European AllofUs