Polygenic Score (PGS) ID: PGS003413

Predicted Trait
Reported Trait Intraocular pressure
Mapped Trait(s) intraocular pressure measurement (EFO_0004695)
Released in PGS Catalog: Feb. 8, 2023
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Score Details

Score Construction
PGS Name rvPRS_IOP
Development Method
Name Genome-wide significant rare SNPs
Parameters p<5E-07
Variants
Original Genome Build hg38
Number of Variants 25
Effect Weight Type weighted by functional implication
PGS Source
PGS Catalog Publication (PGP) ID PGP000426
Citation (link to publication) Gao XR et al. Nat Commun (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 89.5%
Multi-ancestry (excluding European): 10.5%
  • South Asian
  • East Asian
  • African
110,260 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
— 98,674 individuals European UKB
— 11,586 individuals South Asian, East Asian, African unspecified 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
PPM017063 PSS010108|
European Ancestry|
312,825 individuals
 PGP000426 |
Gao XR et al. Nat Commun (2022)
 Reported Trait: Glaucoma OR: 1.12 — ΔAUROC (%): 0.5 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
PSS010108 — — 312,825 individuals — European — UKB —