Polygenic Score (PGS) ID: PGS000424

Predicted Trait
Reported Trait Melanomas of skin (diagnosis or history)
Mapped Trait(s) melanoma (EFO_0000756)
Additional Trait Information PheCode 172.1
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608
Development Method
Name Pruning and Thresholding (P+T)
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-07
Variants
Original Genome Build GRCh37
Number of Variants 27
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
356,564 individuals (100%)
Score Development/Training
European: 100%
14,991 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: GCST004142
Europe PMC: 28212542
 291,407 individuals European NR
GWAS Catalog: GCST000437
Europe PMC: 19578364
 5,456 individuals European NR
GWAS Catalog: GCST001266
Europe PMC: 21983785
 6,555 individuals European NR
GWAS Catalog: GCST001886
Europe PMC: 23455637
 4,919 individuals European NR
GWAS Catalog: GCST000198
Europe PMC: 18488026
 1,728 individuals European NR
GWAS Catalog: GCST001267
Europe PMC: 21983787
 10,422 individuals European NR
GWAS Catalog: GCST003061
Europe PMC: 26237428
 36,077 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
Europe PMC: 32991828
[
  • 1,364 cases
  • , 13,627 controls
]
 European UKB PheCode:172.1; ICD9:-; ICD10:C43.0, C43.1, C43.2, C43.3, C43.4, C43.5, C43.6, C43.7, C43.8, C43.9, D03.0, D03.1, D03.2, D03.3, D03.4, D03.5, D03.6, D03.7, D03.8, D03.9 — — — —

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
PPM001109 PSS000567|
European Ancestry|
14,482 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Melanomas of skin, dx or hx OR: 1.563 [1.475, 1.656]
β: 0.447 (0.0294)		 AUROC: 0.619 [0.603, 0.634] Nagelkerke's Pseudo-R²: 0.035
Brier score: 0.0812
Odds Ratio (OR, top 1% vs. Rest): 3.12 [2.18, 4.47]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608

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
PSS000567 PheCode:172.1; ICD9:-; ICD10:C43.0, C43.1, C43.2, C43.3, C43.4, C43.5, C43.6, C43.7, C43.8, C43.9, D03.0, D03.1, D03.2, D03.3, D03.4, D03.5, D03.6, D03.7, D03.8, D03.9 —
[
  • 1,317 cases
  • , 13,165 controls
]
 — European — UKB —