Trait Information | |
Identifier | MONDO_0015486 |
Description | A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. [NCIT: P378] | Trait category |
Other disease
|
Synonyms |
6 synonyms
|
Mapped terms |
14 mapped terms
|
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS002292 (PRS36_KC) |
PGP000321 | He W et al. JAMA Ophthalmol (2022) |
Keratoconus | keratoconus | 36 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002292/ScoringFiles/PGS002292.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 |
---|---|---|---|---|---|---|---|---|---|
PPM013012 | PGS002292 (PRS36_KC) |
PSS009647| European Ancestry| 142,595 individuals |
PGP000321 | He W et al. JAMA Ophthalmol (2022) |
Reported Trait: Keratoconus | — | AUROC: 0.705 | — | — | — |
PPM013013 | PGS002292 (PRS36_KC) |
PSS009647| European Ancestry| 142,595 individuals |
PGP000321 | He W et al. JAMA Ophthalmol (2022) |
Reported Trait: Keratoconus with corneal resistance factor variants | — | AUROC: 0.756 | — | — | — |
PPM013014 | PGS002292 (PRS36_KC) |
PSS009647| European Ancestry| 142,595 individuals |
PGP000321 | He W et al. JAMA Ophthalmol (2022) |
Reported Trait: Keratoconus with central corneal thickness variants | — | AUROC: 0.755 | — | — | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS009647 | Keratoconus cases (ICD10 diagnosis code H186) and healthy controls without severe eye diseases (UKB Field 6148) | — | [
|
— | European | — | UKB | — |