Polygenic Score (PGS) ID: PGS000617

Predicted Trait
Reported Trait Ocular cancer
Mapped Trait(s) ocular cancer (MONDO_0002236)
Additional Trait Information PheCode 190
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608
Development Method
Name PRS-CS
Parameters Parameters = auto; LD reference (eur)
Variants
Original Genome Build GRCh37
Number of Variants 834,009
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%
361,141 individuals (100%)
Score Development/Training
European: 100%
567 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 109 cases
  • , 361,032 controls
]
 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
[
  • 52 cases
  • , 515 controls
]
 European MGI PheCode:190; ICD9CM:190.0, 190.1, 190.2, 190.3, 190.4, 190.5, 190.6, 190.7, 190.8, 190.9, 234.0, V10.84; ICD10CM:C69, C69.0, C69.00, C69.01, C69.02, C69.1, C69.10, C69.11, C69.12, C69.2, C69.20, C69.21, C69.22, C69.3, C69.30, C69.31, C69.32, C69.4, C69.40, C69.41, C69.42, C69.5, C69.50, C69.51, C69.52, C69.6, C69.60, C69.61, C69.62, C69.8, C69.80, C69.81, C69.82, C69.9, C69.90, C69.91, C69.92, D09.2, D09.20, D09.21, D09.22 — — — —

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
PPM001302 PSS000556|
European Ancestry|
672 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of eye OR: 1.339 [1.033, 1.736]
β: 0.292 (0.132)		 AUROC: 0.586 [0.508, 0.658] Nagelkerke's Pseudo-R²: 0.0152
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 4.74 [1.2, 18.7]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE190_20001-1030_PRS-CS_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
PSS000556 PheCode:190; ICD9CM:190.0, 190.1, 190.2, 190.3, 190.4, 190.5, 190.6, 190.7, 190.8, 190.9, 234.0, V10.84; ICD10CM:C69, C69.0, C69.00, C69.01, C69.02, C69.1, C69.10, C69.11, C69.12, C69.2, C69.20, C69.21, C69.22, C69.3, C69.30, C69.31, C69.32, C69.4, C69.40, C69.41, C69.42, C69.5, C69.50, C69.51, C69.52, C69.6, C69.60, C69.61, C69.62, C69.8, C69.80, C69.81, C69.82, C69.9, C69.90, C69.91, C69.92, D09.2, D09.20, D09.21, D09.22 —
[
  • 62 cases
  • , 610 controls
]
 — European — MGI —