Polygenic Score (PGS) ID: PGS003416

Predicted Trait
Reported Trait Basal cell carcinoma (MTAG)
Mapped Trait(s) basal cell carcinoma (EFO_0004193)
Released in PGS Catalog: Feb. 8, 2023
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Score Details

Score Construction
Development Method
Name Genome-wide significant SNPs
Parameters p<1e-04
Original Genome Build GRCh37
Number of Variants 462
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000429
Citation (link to publication) Seviiri M et al. Nat Commun (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
307,684 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: GCST90137411
Europe PMC: 36496446
307,684 individuals European GERA, QSKIN, UKB, eMERGE

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM017069 PSS010113|
European Ancestry|
18,933 individuals
PGP000429 |
Seviiri M et al. Nat Commun (2022)
Reported Trait: Keratinocyte cancers OR: 1.66 [1.55, 1.79] age, sex, 10 ancesty PCs

Evaluated Samples

PGS Sample Set 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
PSS010113 18,933 individuals European CLSA