Polygenic Score (PGS) ID: PGS004542

Predicted Trait
Reported Trait K42 (Umbilical hernia)
Mapped Trait(s) Umbilical hernia (HP_0001537)
Released in PGS Catalog: March 18, 2024
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Score Details

Score Construction
PGS Name meta.K42.score
Development Method
Name RFDiseasemetaPRS
Parameters Elasticnet regression (Disease PRS + risk factor PRSs)
Variants
Original Genome Build GRCh37
Number of Variants 1,059,939
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000561
Citation (link to publication) Jung H et al. Commun Biol (2024)
Ancestry Distribution
Score Development/Training
European: 100%
174,489 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
— 174,489 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
PPM020657 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K42 (Umbilical hernia) OR: 1.31616 — — — —

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
PSS011364 — — 56,192 individuals — European — UKB —