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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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

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)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
GWAS Catalog: GCST010304
Europe PMC: 32341527
411,948 individualsEuropeanNR
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Score Development/Training
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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 individualsEuropeanUKB—Mean = 63.39 years———
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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.

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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
PPM018501PSS010995|
European Ancestry|
448 individuals
PGP000470 |
Xin J et al. EBioMedicine (2023)
Reported Trait: Skin MelanomaOR: 1.49 [1.34, 1.66]————
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Evaluated Samples

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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 individualsMean = 58.23 yearsEuropean—TCGA—
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