Polygenic Score (PGS) ID: PGS000363

Predicted Trait
Reported Trait Cancer of esophagus
Mapped Trait(s) esophageal cancer (MONDO_0007576)
Additional Trait Information PheCode 150
Released in PGS Catalog: Dec. 15, 2020
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Terms and Licenses
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608
Variants
Original Genome Build GRCh37
Number of Variants 1,081,646
Development Method
Name PRS-CS
Parameters Parameters = auto; LD reference (eur)
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
EuropePMC: http://www.nealelab.is/uk-biobank/
[
  • 519 cases
  • , 360,675 controls
]
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:150; ICD9CM:150.0, 150.1, 150.2, 150.3, 150.4, 150.5, 150.8, 150.9, 230.1, V10.03; ICD10CM:C15, C15.3, C15.4, C15.5, C15.8, C15.9, D00.1
[
  • 190 cases
  • , 1,900 controls
]
European MGI

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 ID)
PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001048 PSS000537 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Cancer of esophagus OR: 1.249 [1.075, 1.45]
β: 0.222 (0.0762)
AUROC: 0.564 [0.525, 0.604] Nagelkerke's Pseudo-R²: 0.0089
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 2.84 [1.07, 7.54]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608

Evaluated Samples

PGS Sample Set ID
(PSS 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
PSS000537 PheCode:150; ICD9CM:150.0, 150.1, 150.2, 150.3, 150.4, 150.5, 150.8, 150.9, 230.1, V10.03; ICD10CM:C15, C15.3, C15.4, C15.5, C15.8, C15.9, D00.1
[
  • 188 cases
  • , 1,876 controls
]
European MGI