Polygenic Score (PGS) ID: PGS004953

Predicted Trait
Reported Trait Melanoma
Mapped Trait(s) melanoma (EFO_0000756)
Released in PGS Catalog: Sept. 19, 2024
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Score Details

Score Construction
PGS Name PRS21_melanoma
Development Method
Name Genome-wide significant SNPs
Parameters MAF > 0.001, imputation quality scores > 0.8, r2 <0.025
Variants
Original Genome Build NR
Number of Variants 21
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000675
Citation (link to publication) Pandeya N et al. Br J Dermatol (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
36,077 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST003061
Europe PMC: 26237428
 36,077 individuals European NR

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
PPM021766 PSS011790|
European Ancestry|
15,283 individuals
 PGP000675 |
Pandeya N et al. Br J Dermatol (2023)
 Reported Trait: Any melanoma — — Hazard ratio (HR, high vs low PGS tertile): 1.91 [1.6, 2.27] Age, sex —
PPM021767 PSS011790|
European Ancestry|
15,283 individuals
 PGP000675 |
Pandeya N et al. Br J Dermatol (2023)
 Reported Trait: Invasive melanoma — — Hazard ratio (HR, high vs low PGS tertile): 1.87 [1.4, 2.5] Age, sex —
PPM021768 PSS011790|
European Ancestry|
15,283 individuals
 PGP000675 |
Pandeya N et al. Br J Dermatol (2023)
 Reported Trait: In situ melanoma — — Hazard ratio (HR, high vs low PGS tertile): 1.91 [1.53, 2.38] Age, sex —

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
PSS011790 — — 15,283 individuals — European — QSKIN —