Polygenic Score (PGS) ID: PGS000147

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: April 29, 2020
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name CRC21
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 i... n chromosome X that was coded 0, 0.5, and 1.Show more
Variants
Original Genome Build NR
Number of Variants 21
Effect Weight Type Unweighted
PGS Source
PGS Catalog Publication (PGP) ID PGP000070
Citation (link to publication) Ibáñez-Sanz G et al. Sci Rep (2017)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Not Reported: 100%
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
Europe PMC: 30445434
NRNRNR
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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.

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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
PPM000446PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colon cancerOdds 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 historyShow more
PPM000447PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Rectal cancerOdds 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 historyShow more
PPM000448PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colorectal cancerAUROC: 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 historyShow more
PPM000449PSS000259|
European Ancestry|
4,080 individuals
PGP000070 |
Ibáñez-Sanz G et al. Sci Rep (2017)
Reported Trait: Colorectal cancerAUROC: 0.56 [0.54, 0.58]
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Evaluated Samples

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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
PSS000259
[
  • 1,336 cases
  • , 2,744 controls
]
,
57.21 % Male samples
Range = [25.0, 90.0] yearsEuropean
(Spanish)
MCC-Spain
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