Polygenic Score (PGS) ID: PGS018659

Predicted Trait
Reported Trait Nontoxic uninodular goiter
Mapped Trait(s) nontoxic goiter (MONDO_0001658)
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_241.1_SBayesR
Development Method
Name SBayesR
Parameters NR
Variants
Original Genome Build GRCh38
Number of Variants 1,006,150
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%
304,314 individuals (100%)
Score Development/Training
East Asian: 100%
69,605 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)
—
[
  • 3,493 cases
  • , 300,821 controls
]
,
47.12 % 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
—
[
  • 1,006 cases
  • , 68,599 controls
]
,
49.11 % Male samples
 East Asian
(Han Chinese)		 TPMI 241.1,E01.1, E04.2 — — — —

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
PPM036841 PSS012556|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.7192 R²: 0.01711 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
PSS012556 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —