Polygenic Score (PGS) ID: PGS000544

Predicted Trait
Reported Trait Malignant neoplasm of ovary
Mapped Trait(s) ovarian neoplasm (EFO_0003893)
Additional Trait Information PheCode 184.11
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_P_5e-08_UKB_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 21
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%
512,028 individuals (100%)
Score Development/Training
European: 100%
5,130 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: GCST004462
Europe PMC: 28346442
 85,426 individuals European NR
GWAS Catalog: GCST004480
Europe PMC: 28346442
 53,978 individuals European NR
GWAS Catalog: GCST004478
Europe PMC: 28346442
 54,990 individuals European NR
GWAS Catalog: GCST004415
Europe PMC: 28346442
 63,347 individuals European NR
GWAS Catalog: GCST004419
Europe PMC: 28346442
 43,507 individuals European NR
GWAS Catalog: GCST004481
Europe PMC: 28346442
 43,907 individuals European NR
GWAS Catalog: GCST004479
Europe PMC: 28346442
 42,895 individuals European NR
GWAS Catalog: GCST001917
Europe PMC: 23544013
 2,727 individuals European NR
GWAS Catalog: GCST002748
Europe PMC: 25581431
 13,491 individuals European NR
GWAS Catalog: GCST004414
Europe PMC: 28346442
 19,036 individuals European NR
GWAS Catalog: GCST000455
Europe PMC: 19648919
 4,170 individuals European NR
GWAS Catalog: GCST004417
Europe PMC: 28346442
 42,307 individuals European NR
GWAS Catalog: GCST001258
Europe PMC: 21964575
 42,247 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
[
  • 466 cases
  • , 4,664 controls
]
 European UKB PheCode:184.11; ICD9:183.0; ICD10:C56 — — — —

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
PPM001229 PSS000572|
European Ancestry|
5,196 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Malignant neoplasm of ovary OR: 1.12 [1.021, 1.23]
β: 0.114 (0.0475)		 AUROC: 0.532 [0.506, 0.559] Nagelkerke's Pseudo-R²: 0.00239
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 0.923 [0.347, 2.45]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_P_5e-08_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
PSS000572 PheCode:184.11; ICD9:183.0; ICD10:C56 —
[
  • 473 cases
  • , 4,723 controls
]
 — European — UKB —