Polygenic Score (PGS) ID: PGS005273

Predicted Trait
Reported Trait Thyroid carcenoma vs benign nodular goiter
Mapped Trait(s)
Released in PGS Catalog: Jan. 19, 2026
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Score Details

Score Construction
PGS Name tc_vs_bng_mixed_prscs
Development Method
Name PRSCS
Parameters phi=1e-4
Variants
Original Genome Build GRCh38
Number of Variants 1,085,164
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000748
Citation (link to publication) White SL et al. medRxiv (2025) Preprint
Ancestry Distribution
Source of Variant
Associations (GWAS)
Not Reported: 100%
PGS Evaluation
Multi-ancestry (including European): 100%
  • African
  • Hispanic or Latin American
  • European
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90627774
 NR Not reported 11 cohorts
  • AllofUs
  • ,BBJ
  • ,BioMe
  • ,BioVU
  • ,CKB
  • ,HUNT
  • ,MGBB
  • ,MGI
  • ,NSGHI
  • ,PMB
  • ,UKB

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
PPM022756 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: thyroid carcenoma vs benign nodular goiter OR: 1.55052
β: 0.43859		 AUROC: 0.61739 — — —

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
PSS012069 Cases - ICD-9-CM codes: 193, V10.87, ICD-10-CM billing codes: C73, Z85.850, ICD-9 codes: 193, V10.87, ICD-10 codes: C73, SNOMED: 92767001 Carcinoma in situ of thyroid gland, 363478007 Malignant tumor of thyroid gland, 255028004 Follicular thyroid carcinoma, 423158009 Hurthle cell carcinoma of thyroid, 772992009 Primary differentiated carcinoma of thyroid gland. Controls - ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter ICD-10-CM billing codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter, ICD-10 codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, SNOMED: 419153005 Nodular goiter, 190236006 Non-toxic nodular goiter, 66392007 Substernal goiter, 60968001 Adenomatous goiter — 94,651 individuals — African American or Afro-Caribbean, Hispanic or Latin American, European — CCPM —