Polygenic Score (PGS) ID: PGS012578

Predicted Trait
Reported Trait Type 2 diabetes (T2D)
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Released in PGS Catalog: June 17, 2026
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Score Details

Score Construction
PGS Name PRS1004_t2d
Development Method
Name PRSice2
Parameters r2 = 0.1, imputation info score < 0.9, MAF<0.01
Variants
Original Genome Build NR
Number of Variants 1,004
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000813
Citation (link to publication) Song M et al. Sci Rep (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
210,865 individuals (100%)
Score Development/Training
East Asian: 100%
3,294 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)
GWAS Catalog: GCST90013693
Europe PMC: 32514122
210,865 individuals East Asian BBJ
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
[
  • 745 cases
  • , 2,549 controls
]
East Asian
(Japanese)
KARE

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
PPM030729 PSS012269|
East Asian Ancestry|
41,387 individuals
PGP000813 |
Song M et al. Sci Rep (2024)
Reported Trait: Type 2 diabetes OR: 1.964 [1.901, 2.028] age, sex, and BMI
PPM030730 PSS012269|
East Asian Ancestry|
41,387 individuals
PGP000813 |
Song M et al. Sci Rep (2024)
Reported Trait: Type 2 diabetes in abdominal obesity OR: 1.758 [1.665, 1.855] age, sex, and BMI
PPM030731 PSS012269|
East Asian Ancestry|
41,387 individuals
PGP000813 |
Song M et al. Sci Rep (2024)
Reported Trait: Type 2 diabetes without abdominal obesity OR: 2.083 [2.001, 2.168] age, sex, and BMI
PPM030732 PSS012269|
East Asian Ancestry|
41,387 individuals
PGP000813 |
Song M et al. Sci Rep (2024)
Reported Trait: Type 2 diabetes x waist circumference interaction OR: 0.991 [0.987, 0.995] age, sex, BMI, residence area

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
PSS012269
[
  • 5,684 cases
  • , 35,703 controls
]
East Asian
(Japanese)
HEXA