Predicted Trait | |
Reported Trait | Slipped disc |
Mapped Trait(s) | Epiphyses, Slipped (EFO_1001317) |
Additional Trait Information | https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/HC176 |
Score Construction | |
PGS Name | GBE_HC176 |
Development Method | |
Name | snpnet |
Parameters | NR |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 47 |
Effect Weight Type | NR |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000244 |
Citation (link to publication) | Tanigawa Y et al. PLoS Genet (2022) |
Ancestry Distribution | |
Score Development/Training | European: 100% 269,704 individuals (100%) |
PGS Evaluation | European: 40% African: 20% East Asian: 20% South Asian: 20% 5 Sample Sets |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) | Phenotype Definitions & Methods | Age of Study Participants | Participant Follow-up Time | Additional Ancestry Description | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
— | [
|
European | UKB | — | — | — | white British ancestry | — |
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 |
---|---|---|---|---|---|---|---|---|
PPM007644 | PSS004326| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Prolapsed disc/slipped disc | — | AUROC: 0.63682 [0.56928, 0.70437] | R²: 0.02156 Incremental AUROC (full-covars): 0.00372 PGS R2 (no covariates): 0.00327 PGS AUROC (no covariates): 0.55166 [0.47346, 0.62985] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM007645 | PSS004327| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Prolapsed disc/slipped disc | — | AUROC: 0.81007 [0.70133, 0.91881] | R²: 0.11316 Incremental AUROC (full-covars): -0.00081 PGS R2 (no covariates): 0.00529 PGS AUROC (no covariates): 0.44295 [0.26666, 0.61923] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM007646 | PSS004328| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Prolapsed disc/slipped disc | — | AUROC: 0.56388 [0.53738, 0.59039] | R²: 0.00535 Incremental AUROC (full-covars): 0.00616 PGS R2 (no covariates): 0.00079 PGS AUROC (no covariates): 0.5207 [0.49331, 0.54808] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM007647 | PSS004329| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Prolapsed disc/slipped disc | — | AUROC: 0.61724 [0.56387, 0.67062] | R²: 0.01708 Incremental AUROC (full-covars): 0.00757 PGS R2 (no covariates): 0.00213 PGS AUROC (no covariates): 0.54913 [0.49663, 0.60163] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM007648 | PSS004330| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Prolapsed disc/slipped disc | — | AUROC: 0.5452 [0.52946, 0.56094] | R²: 0.0026 Incremental AUROC (full-covars): 0.01313 PGS R2 (no covariates): 0.00226 PGS AUROC (no covariates): 0.54225 [0.5262, 0.5583] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
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 |
---|---|---|---|---|---|---|---|---|
PSS004326 | — | — | [
|
— | African unspecified | — | UKB | — |
PSS004327 | — | — | [
|
— | East Asian | — | UKB | — |
PSS004328 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
PSS004329 | — | — | [
|
— | South Asian | — | UKB | — |
PSS004330 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |