Polygenic Score (PGS) ID: PGS005150

Predicted Trait
Reported Trait Cholelithiasis
Mapped Trait(s) cholelithiasis (EFO_0004799)
Released in PGS Catalog: March 17, 2025
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Score Details

Score Construction
PGS Name Cholelithiasis (PRS-CSx; EAS+EUR)
Development Method
Name PRS-CSx
Parameters PRS-CSx auto
Variants
Original Genome Build hg19
Number of Variants 908,465
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000704
Citation (link to publication) Jung HU et al. Commun Biol (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 72%
East Asian: 28%
633,906 individuals (100%)
PGS Evaluation
East Asian: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90018599
Europe PMC: 34594039
 177,558 individuals East Asian BBJ
GWAS Catalog: GCST90044196
Europe PMC: 34737426
 456,348 individuals European UKB

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
PPM022370 PSS011920|
East Asian Ancestry|
58,628 individuals
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Reported Trait: Cholelithiasis β: 1.19056 — — age, sex —

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
PSS011920 — —
[
  • 1,784 cases
  • , 56,844 controls
]
 — East Asian
(Korean)		 — HEXA —