Polygenic Score (PGS) ID: PGS000426

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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Terms and Licenses
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608
Variants
Original Genome Build GRCh37
Number of Variants 20
Development Method
Name GWAS Hits
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-08
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
EuropePMC: 28212542
[
  • 6,628 cases
  • , 287,591 controls
]
European
Score Development/Training
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
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
[
  • 1,364 cases
  • , 13,627 controls
]
European UKB

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 ID)
PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001111 PSS000567 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.551 [1.463, 1.643]
β: 0.439 (0.0296)
AUROC: 0.62 [0.604, 0.635] Nagelkerke's Pseudo-R²: 0.0335
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.81 [1.93, 4.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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