Trait Information | |
Identifier | MONDO_0007576 |
Description | A primary or metastatic malignant neoplasm involving the esophagus. [NCIT: C7478] | Trait categories |
Cancer
Digestive system disorder
|
Synonyms |
11 synonyms
|
Mapped terms |
21 mapped terms
|
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | Ancestry distribution | Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000363 (PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Cancer of esophagus | esophageal cancer | 1,081,646 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000363/ScoringFiles/PGS000363.txt.gz | |
PGS000364 (PRSWEB_PHECODE150_C15_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Cancer of esophagus | esophageal cancer | 2,001 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000364/ScoringFiles/PGS000364.txt.gz | |
PGS000365 (PRSWEB_PHECODE150_C3-OESOPHAGUS_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Cancer of esophagus | esophageal cancer | 1,070,434 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000365/ScoringFiles/PGS000365.txt.gz | |
PGS000366 (PRSWEB_PHECODE150_UKBB-SAIGE-HRC-X150_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Cancer of esophagus | esophageal cancer | 1,119,238 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000366/ScoringFiles/PGS000366.txt.gz |
PGS Performance Metric ID (PPM) |
Evaluated Score |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM001048 | PGS000363 (PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608) |
PSS000537| European Ancestry| 2,064 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of esophagus | OR: 1.249 [1.075, 1.45] β: 0.222 (0.0762) |
AUROC: 0.564 [0.525, 0.604] | Nagelkerke's Pseudo-R²: 0.0089 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 2.84 [1.07, 7.54] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_C15_PRS-CS_MGI_20200608 |
PPM001049 | PGS000364 (PRSWEB_PHECODE150_C15_LASSOSUM_MGI_20200608) |
PSS000537| European Ancestry| 2,064 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of esophagus | OR: 1.203 [1.041, 1.391] β: 0.185 (0.074) |
AUROC: 0.551 [0.51, 0.588] | Nagelkerke's Pseudo-R²: 0.00648 Brier score: 0.0826 Odds Ratio (OR, top 1% vs. Rest): 1.81 [0.56, 5.82] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_C15_LASSOSUM_MGI_20200608 |
PPM001050 | PGS000365 (PRSWEB_PHECODE150_C3-OESOPHAGUS_PRS-CS_MGI_20200608) |
PSS000537| European Ancestry| 2,064 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of esophagus | OR: 1.187 [1.021, 1.38] β: 0.171 (0.0769) |
AUROC: 0.553 [0.514, 0.596] | Nagelkerke's Pseudo-R²: 0.00521 Brier score: 0.0826 Odds Ratio (OR, top 1% vs. Rest): 1.27 [0.329, 4.9] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_C3-OESOPHAGUS_PRS-CS_MGI_20200608 |
PPM001051 | PGS000366 (PRSWEB_PHECODE150_UKBB-SAIGE-HRC-X150_PRS-CS_MGI_20200608) |
PSS000537| European Ancestry| 2,064 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Cancer of esophagus | OR: 1.24 [1.067, 1.441] β: 0.215 (0.0766) |
AUROC: 0.564 [0.522, 0.605] | Nagelkerke's Pseudo-R²: 0.00839 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 1.28 [0.332, 4.95] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE150_UKBB-SAIGE-HRC-X150_PRS-CS_MGI_20200608 |
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 |
---|---|---|---|---|---|---|---|---|
PSS000537 | PheCode:150; ICD9CM:150.0, 150.1, 150.2, 150.3, 150.4, 150.5, 150.8, 150.9, 230.1, V10.03; ICD10CM:C15, C15.3, C15.4, C15.5, C15.8, C15.9, D00.1 | — | [
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— | European | — | MGI | — |