Polygenic Score (PGS) ID: PGS000147

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (EFO_0005842)
Released in PGS: April 29, 2020

Score Details

Score Construction
PGS Name CRC21
Variants
Original Genome Build NR
Number of Variants 21
Development Method
Name GWAS Catalog SNPs (unweighted allele count)
Parameters Variant dosage was calculated as 0, 1, or 2 copies of the risk allele except for the SNP rs5934683 in chromosome X that was coded 0, 0.5, and 1.
PGS Source
PGS Catalog Publication (PGP) ID PGP000070
Citation (link to publication) Ibáñez-Sanz G et al. Sci Rep (2017)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
EuropePMC: 30445434
[
  • 0 cases
  • , 0 controls
]
Not reported

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
PPM000449 PSS000259 PGP000070
Ibáñez-Sanz G et al. (2017)
Reported Trait: Colorectal cancer AUROC: 0.56[0.54, 0.58]
PPM000446 PSS000259 PGP000070
Ibáñez-Sanz G et al. (2017)
Reported Trait: Colon cancer Odds Ratio (OR; per allele): 1.06[1.03, 1.09] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history
PPM000447 PSS000259 PGP000070
Ibáñez-Sanz G et al. (2017)
Reported Trait: Rectal cancer Odds Ratio (OR; per allele): 1.1[1.06, 1.15] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history
PPM000448 PSS000259 PGP000070
Ibáñez-Sanz G et al. (2017)
Reported Trait: Colorectal cancer AUROC: 0.63[0.6, 0.66] Odds Ratio (OR; per allele): 1.07[1.04, 1.1] environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000259
[
  • 1,336 cases
  • , 2,744 controls
]
,
57.21 % Male samples
Range = [25.0, 90.0] years European
(Spanish)
MCC-Spain