Predicted Trait | |
Reported Trait | Colorectal cancer |
Mapped Trait(s) | colorectal cancer (EFO_0005842) |
Additional Trait Information | PheCode 153 |
Score Construction | |
PGS Name | PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608 |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 18 |
Development Method | |
Name | GWAS Hits |
Parameters | LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-08 |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000118 |
Citation (link to publication) | Fritsche LG et al. Am J Hum Genet (2020) |
Study Identifiers | Sample Numbers | Sample Ancestry |
---|---|---|
GWAS Catalog: GCST001787 EuropePMC: 23266556 |
27,809 individuals | European |
GWAS Catalog: GCST002919 EuropePMC: 25990418 |
17,556 individuals | European |
GWAS Catalog: GCST003017 EuropePMC: 26151821 |
37,955 individuals | European |
GWAS Catalog: GCST002411 EuropePMC: 24737748 |
13,443 individuals | European |
GWAS Catalog: GCST000053 EuropePMC: 17618284 |
1,890 individuals | European |
GWAS Catalog: GCST000168 EuropePMC: 18372901 |
1,983 individuals | European (U.K.) |
GWAS Catalog: GCST000270 EuropePMC: 19011631 |
3,831 individuals | European |
GWAS Catalog: GCST000113 EuropePMC: 17934461 |
1,890 individuals | European |
GWAS Catalog: GCST004895 EuropePMC: 28960316 |
15,783 individuals | European |
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 |
---|---|---|---|---|---|---|---|
PheCode:153; ICD9:154.8; ICD10:C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.8, C26.0, D01.0, D01.1, D01.2, D01.3 | — | [
|
— | European | — | UKB | — |
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 |
---|---|---|---|---|---|---|---|---|
PPM001056 | PSS000564 | PGP000118 Fritsche LG et al. (2020) |
Reported Trait: Colorectal cancer | OR: 1.254 [1.202, 1.309] β: 0.226 (0.0217) |
AUROC: 0.561 [0.548, 0.573] | Nagelkerke's Pseudo-R²: 0.00946 Brier score: 0.0822 Odds Ratio (OR, top 1% vs. Rest): 1.79 [1.28, 2.51] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608 |
PGS Sample Set ID (PSS ID) |
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 |
---|---|---|---|---|---|---|---|---|
PSS000564 | PheCode:153; ICD9:154.8; ICD10:C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.8, C26.0, D01.0, D01.1, D01.2, D01.3 | — | [
|
— | European | — | UKB | — |