Download PGS
(Variants and weights)

Polygenic Score (PGS) ID: PGS000055

Predicted Trait

Reported Trait: Colorectal cancer
Mapped Trait(s) (Experimental Factor Ontology (EFO) IDs): colorectal cancer

Score Details

Name: PRS_CRC

Original Genome Build: hg19
Number of Variants: 76

PGS Development Method: Known susceptibility variants (genome-wide significant SNPs)
PGS Development Details/Relevant Parameters: Replicated p-values (discovery p-value < 5e-8, replication p-value < 0.05)

Citation: Schmit SL et al. J Natl Cancer Inst (2019) | PGS Catalog Publication ID: PGP000040

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST006131
PubMed: 29917119
6,597 individuals African American or Afro-Caribbean
GWAS Catalog: GCST006131
PubMed: 29917119
67,812 individuals European

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 (PPM) ID PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000139 PSS000087 Schmit SL et al. (2019) Reported Trait: Colorectal cancer Familial relative risk explained (%): 11.9 [9.2 - 15.5]
PRS percentile threshold for Odds Ratio > 2: 95.7
age, sex, PCs, PC*study
PPM000140 PSS000086 Schmit SL et al. (2019) Reported Trait: Colorectal cancer PRS percentile threshold for Odds Ratio > 2: 99.1 age, sex, PCs, PC*study

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000086 21,630 individuals
[ 8,580 cases, 13,050 controls]
East Asian CORSA, COLON, DACHS, EPIC, HPFS, MGI, NHS, UKB
PSS000087 61,335 individuals
[ 12,952 cases, 48,383 controls]
European CORSA, COLON, EPIC, MGI, UKB, DACHS4, HPFS3, NHS3