Polygenic Score (PGS) ID: PGS000461

Predicted Trait
Reported Trait Squamous cell carcinoma
Mapped Trait(s) squamous cell carcinoma (EFO_0000707)
Additional Trait Information PheCode 172.22
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_MGI_20200608
Development Method
Name GWAS Hits
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-08
Variants
Original Genome Build GRCh37
Number of Variants 13
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%
362,144 individuals (100%)
Score Development/Training
European: 100%
8,029 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: GCST003327
Europe PMC: 26829030
 61,457 individuals European NR
GWAS Catalog: GCST003655
Europe PMC: 27424798
 287,137 individuals European NR
GWAS Catalog: GCST003422
Europe PMC: 26908436
 13,550 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
[
  • 935 cases
  • , 7,094 controls
]
 European MGI PheCode:172.22; ICD9CM:173.02, 173.12, 173.22, 173.32, 173.42, 173.52, 173.62, 173.72, 173.82, 173.92; ICD10CM:C44.02, C44.121, C44.122, C44.129, C44.221, C44.222, C44.229, C44.320, C44.321, C44.329, C44.42, C44.520, C44.521, C44.529, C44.621, C44.622, C44.629, C44.721, C44.722, C44.729, C44.82, C44.92 — — — —

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
PPM001146 PSS000545|
European Ancestry|
8,473 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Squamous cell carcinoma OR: 1.491 [1.395, 1.593]
β: 0.4 (0.0338)		 AUROC: 0.599 [0.579, 0.618] Nagelkerke's Pseudo-R²: 0.0304
Brier score: 0.0974
Odds Ratio (OR, top 1% vs. Rest): 3.51 [2.29, 5.39]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_MGI_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
PSS000545 PheCode:172.22; ICD9CM:173.02, 173.12, 173.22, 173.32, 173.42, 173.52, 173.62, 173.72, 173.82, 173.92; ICD10CM:C44.02, C44.121, C44.122, C44.129, C44.221, C44.222, C44.229, C44.320, C44.321, C44.329, C44.42, C44.520, C44.521, C44.529, C44.621, C44.622, C44.629, C44.721, C44.722, C44.729, C44.82, C44.92 —
[
  • 982 cases
  • , 7,491 controls
]
 — European — MGI —