Polygenic Score (PGS) ID: PGS018888

Predicted Trait
Reported Trait Other anemias
Mapped Trait(s) anemia (MONDO_0002280)
Released in PGS Catalog: July 29, 2026
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name TPMI_285_MegaPRS
Development Method
Name MegaPRS
Parameters NR
Variants
Original Genome Build GRCh38
Number of Variants 479,652
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%
327,088 individuals (100%)
Score Development/Training
East Asian: 100%
76,054 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)
—
[
  • 13,717 cases
  • , 313,371 controls
]
,
45.33 % 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
—
[
  • 3,767 cases
  • , 72,287 controls
]
,
47.11 % Male samples
 East Asian
(Han Chinese)		 TPMI 283.2, 284.2, 285, 791.2,D59.5, D59.6, D59.8, D61.82, D62, D63.0, D63.1, D63.8, D64, R82.3 — — — —

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
PPM037070 PSS012790|
East Asian Ancestry|
19,029 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other anemias — AUROC: 0.73195 R²: 0.19232 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
PSS012790 283.2, 284.2, 285, 791.2,D59.5, D59.6, D59.8, D61.82, D62, D63.0, D63.1, D63.8, D64, R82.3 —
[
  • 957 cases
  • , 18,072 controls
]
,
47.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —