Polygenic Score (PGS) ID: PGS002298

Predicted Trait
Reported Trait Esophageal cancer
Mapped Trait(s) esophageal carcinoma (EFO_0002916)
Released in PGS Catalog: June 9, 2022
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Score Details

Score Construction
PGS Name PRS14_esophageal
Development Method
Name Genome-wide significant variants
Parameters r2>=0.93
Variants
Original Genome Build hg19
Number of Variants 14
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000328
Citation (link to publication) Choi J et al. Int J Cancer (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
21,271 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: GCST003739
Europe PMC: 27527254
21,271 individuals European NR

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
PPM013027 PSS009661|
European Ancestry|
406 individuals
PGP000328 |
Choi J et al. Int J Cancer (2020)
Reported Trait: Esophageal cancer AUROC: 0.53 [0.51, 0.56]

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
PSS009661 esophageal cancer (ICD-9 = 150 or ICD-10 = C15) 406 individuals European UKB