Polygenic Score (PGS) ID: PGS019072

Predicted Trait
Reported Trait Disorders of iris and ciliary body
Mapped Trait(s) eye disorder (MONDO_0005328)
Released in PGS Catalog: July 29, 2026
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Score Details

Score Construction
PGS Name TPMI_379.5_LDpred2
Development Method
Name LDpred2
Parameters NR
Variants
Original Genome Build GRCh38
Number of Variants 939,798
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000835
Citation (link to publication) Chen HH et al. Nature (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
309,241 individuals (100%)
Score Development/Training
East Asian: 100%
70,761 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)
—
[
  • 11,741 cases
  • , 297,500 controls
]
,
45.38 % Male samples
 East Asian
(Han Chinese)		 TPMI
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
—
[
  • 3,307 cases
  • , 67,454 controls
]
,
47.37 % Male samples
 East Asian
(Han Chinese)		 TPMI 364, 375.01, 379, 781.93,A18.51, H04.01, H15, H21, H22, H27, H43, H44, H57.0, H57.1, H57.8, H57.9, R29.891 — — — —

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
PPM037254 PSS012968|
East Asian Ancestry|
16,888 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of iris and ciliary body — AUROC: 0.68292 R²: 0.02204 sex, age, array, PCs 1-10 —

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
PSS012968 364,H21, H22 —
[
  • 114 cases
  • , 16,774 controls
]
,
47.72 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —