Polygenic Score (PGS) ID: PGS004247

Predicted Trait
Reported Trait Melanoma
Mapped Trait(s) cutaneous melanoma (EFO_0000389)
Released in PGS Catalog: Dec. 15, 2023
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Score Details

Score Construction
PGS Name PRS65_melanoma
Development Method
Name PRSice-2
Parameters p = 5E-8, r2 = 0.1
Variants
Original Genome Build NR
Number of Variants 65
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000542
Citation (link to publication) Kim ES et al. NPJ Precis Oncol (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
411,948 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST010304
Europe PMC: 32341527
 411,948 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
PPM020312 PSS011329|
European Ancestry|
115,207 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Melanoma HR: 1.71 [1.55, 1.89] — — first 10 genetic principal components —
PPM020304 PSS011328|
European Ancestry|
133,830 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Melanoma HR: 1.78 [1.62, 1.96] — — first 10 genetic principal components —

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
PSS011328 — — 133,830 individuals,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS011329 — — 115,207 individuals,
100.0 % Male samples
 — European
(British)		 — UKB —