Polygenic Score (PGS) ID: PGS003745

Predicted Trait
Reported Trait Skin Melanoma
Mapped Trait(s) cutaneous melanoma (EFO_0000389)
Released in PGS Catalog: June 1, 2023
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Score Details

Score Construction
PGS Name PRS57_SM
Development Method
Name Genome-wide significant SNPs
Parameters imputation info score ≥0.3, MAF ≥ 0.01
Variants
Original Genome Build GRCh37
Number of Variants 57
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000470
Citation (link to publication) Xin J et al. EBioMedicine (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
411,948 individuals (100%)
Score Development/Training
European: 100%
1,402 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: GCST010304
Europe PMC: 32341527
 411,948 individuals European NR
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
— 1,402 individuals European UKB — Mean = 63.39 years — — —

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
PPM018501 PSS010995|
European Ancestry|
448 individuals
 PGP000470 |
Xin J et al. EBioMedicine (2023)
 Reported Trait: Skin Melanoma OR: 1.49 [1.34, 1.66] — — — —

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
PSS010995 — — 448 individuals Mean = 58.23 years European — TCGA —