Polygenic Score (PGS) ID: PGS000459

Predicted Trait
Reported Trait Basal cell carcinoma
Mapped Trait(s) basal cell carcinoma (EFO_0004193)
Additional Trait Information PheCode 172.21
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_UKB_20200608
Variants
Original Genome Build GRCh37
Number of Variants 24
Development Method
Name P&T
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-09
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%
1,048,484 individuals (100%)
Score Development/Training
European: 100%
61,038 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002842
Europe PMC: 25855136
270,930 individuals European
GWAS Catalog: GCST000249
Europe PMC: 18849993
34,047 individuals European
GWAS Catalog: GCST003726
Europe PMC: 27539887
287,197 individuals European
GWAS Catalog: GCST004113
Europe PMC: 28177523
304,241 individuals European
GWAS Catalog: GCST000318
Europe PMC: 19151717
30,395 individuals European
GWAS Catalog: GCST001124
Europe PMC: 21700618
8,058 individuals European
GWAS Catalog: GCST002331
Europe PMC: 24403052
113,616 individuals 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:172.21; ICD9:173, 173.0, 173.1, 173.2, 173.3, 173.4, 173.5, 173.6, 173.7, 173.8, 173.9; ICD10:C44.0, C44.1, C44.2, C44.3, C44.4, C44.5, C44.6, C44.7, C44.8, C44.9
[
  • 5,550 cases
  • , 55,488 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)
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
PPM001144 PSS000568|
European Ancestry|
60,018 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Basal cell carcinoma OR: 1.528 [1.485, 1.572]
β: 0.424 (0.0144)
AUROC: 0.615 [0.608, 0.623] Nagelkerke's Pseudo-R²: 0.0314
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.05 [2.55, 3.64]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_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
PSS000568 PheCode:172.21; ICD9:173, 173.0, 173.1, 173.2, 173.3, 173.4, 173.5, 173.6, 173.7, 173.8, 173.9; ICD10:C44.0, C44.1, C44.2, C44.3, C44.4, C44.5, C44.6, C44.7, C44.8, C44.9
[
  • 5,450 cases
  • , 54,568 controls
]
European UKB