Polygenic Score (PGS) ID: PGS019021

Predicted Trait
Reported Trait Peripheral retinal degenerations
Mapped Trait(s) retinal degeneration (MONDO_0004580)
Released in PGS Catalog: July 29, 2026
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Score Details

Score Construction
PGS Name TPMI_362.6_Lassosum2
Development Method
Name Lassosum2
Parameters NR
Variants
Original Genome Build GRCh38
Number of Variants 107
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%
314,550 individuals (100%)
Score Development/Training
East Asian: 100%
71,845 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)
—
[
  • 8,651 cases
  • , 305,899 controls
]
,
44.25 % 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
—
[
  • 2,113 cases
  • , 69,732 controls
]
,
45.76 % Male samples
 East Asian
(Han Chinese)		 TPMI 362.50,H35.3 — — — —

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
PPM037203 PSS012929|
East Asian Ancestry|
17,530 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peripheral retinal degenerations — AUROC: 0.66601 R²: 0.00976 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
PSS012929 362.6,H35.4 —
[
  • 168 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —