Polygenic Score (PGS) ID: PGS002758

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Nov. 7, 2022
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Score Details

Score Construction
PGS Name Colorectal_cancer_prscs
Development Method
Name PRS-CS
Parameters PRS-CS-auto in FinnGen, LD reference panel: European ancestry in 1000 Genomes
Variants
Original Genome Build GRCh38
Number of Variants 1,087,843
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000364
Citation (link to publication) Mars N et al. Am J Hum Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
106,006 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 31089142
[
  • 34,627 cases
  • , 71,379 controls
]
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
PPM014958 PSS009939|
European Ancestry|
39,444 individuals
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Reported Trait: Colorectal cancer OR: 1.61 [1.46, 1.77] age, sex, 10 PCs, technical covariates

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
PSS009939 39,444 individuals European
(Finnish)
FinnGen