Polygenic Score (PGS) ID: PGS003412

Predicted Trait
Reported Trait Melanoma
Mapped Trait(s) melanoma (EFO_0000756)
Released in PGS Catalog: Feb. 8, 2023
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Score Details

Score Construction
PGS Name PRS28_melanoma
Development Method
Name Genome-wide significant variants
Parameters P < 5E-7
Variants
Original Genome Build hg19
Number of Variants 28
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000424
Citation (link to publication) Olsen CM et al. Br J Dermatol (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
36,077 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: 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
PPM017060 PSS010106|
European Ancestry|
15,373 individuals
 PGP000424 |
Olsen CM et al. Br J Dermatol (2019)
 Reported Trait: Melanoma — — Hazard ratio (HR, high vs low tertile): 3.02 [2.01, 4.53] — —
PPM017061 PSS010107|
European Ancestry|
38,845 individuals
 PGP000425 |
Olsen CM et al. JAMA Dermatol (2023)
|Ext.		 Reported Trait: Second primary melanoma — — Hazard ratio (HR, high vs low tertile): 3.28 [2.06, 5.23] — —
PPM017062 PSS010107|
European Ancestry|
38,845 individuals
 PGP000425 |
Olsen CM et al. JAMA Dermatol (2023)
|Ext.		 Reported Trait: First primary melanoma — — Hazard ratio (HR, high vs low tertile): 2.06 [1.71, 2.49] — —

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
PSS010106 — Median = 4.4 years 15,373 individuals,
45.0 % Male samples
 Mean = 57.0 years European — QSKIN —
PSS010107 — Median = 7.4 years 38,845 individuals,
46.0 % Male samples
 Mean = 56.1 years European — QSKIN —