Polygenic Score (PGS) ID: PGS002760

Predicted Trait
Reported Trait Epilepsy
Mapped Trait(s) epilepsy (EFO_0000474)
Released in PGS Catalog: Nov. 7, 2022
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Score Details

Score Construction
PGS Name Generalised_epilepsy_prscs
Development Method
Name PRS-CS
Parameters PRS-CS-auto in FinnGen, LD reference panel: European ancestry in 1000 Genomes
Variants
Original Genome Build GRCh38
Number of Variants 835,537
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000364
Citation (link to publication) Mars N et al. Am J Hum Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 83.5%
East Asian: 8.6%
African: 7.9%
33,446 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007353
Europe PMC: 30531953
 27,926 individuals European NR
GWAS Catalog: GCST007353
Europe PMC: 30531953
 2,875 individuals East Asian NR
GWAS Catalog: GCST007353
Europe PMC: 30531953
 2,645 individuals African American or Afro-Caribbean NR

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
PPM014960 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Epilepsy OR: 1.12 [1.05, 1.2] — — age, sex, 10 PCs, technical 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
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —