| Trait Information | |
| Identifier | MONDO_0001176 |
| Description | A disease involving the lens of camera-type eye. | Trait category |
Other trait
|
| Synonyms |
6 synonyms
|
| Child trait(s) | cataract |
| 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) |
|---|---|---|---|---|---|---|
| PGS001302 (GBE_HC25) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Cataract | cataract | 1,214 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001302/ScoringFiles/PGS001302.txt.gz |
| PGS001303 (GBE_HC872) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Other cataract (time-to-event) | cataract | 480 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001303/ScoringFiles/PGS001303.txt.gz |
| PGS001837 (portability-PLR_366) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Cataract | cataract | 11,617 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001837/ScoringFiles/PGS001837.txt.gz |
| PGS002044 (portability-ldpred2_366) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Cataract | cataract | 711,169 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002044/ScoringFiles/PGS002044.txt.gz |
| PGS004454 (disease.H26.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
H26 (Other cataract) | cataract | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004454/ScoringFiles/PGS004454.txt.gz |
| PGS004524 (meta.H26.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
H26 (Other cataract) | cataract | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004524/ScoringFiles/PGS004524.txt.gz |
| PGS005142 (Cataract (PRS-CS; EAS)) |
PGP000704 | Jung HU et al. Commun Biol (2025) |
Cataract | cataract | 908,465 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005142/ScoringFiles/PGS005142.txt.gz |
| PGS005149 (Cataract (PRS-CSx; EAS+EUR)) |
PGP000704 | Jung HU et al. Commun Biol (2025) |
Cataract | cataract | 908,465 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005149/ScoringFiles/PGS005149.txt.gz |
| PGS019046 (TPMI_366_Lassosum2) |
PGP000835 | Chen HH et al. Nature (2025) |
Cataract | cataract | 408,872 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019046/ScoringFiles/PGS019046.txt.gz | |
| PGS019047 (TPMI_366_LDpred2) |
PGP000835 | Chen HH et al. Nature (2025) |
Cataract | cataract | 939,893 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019047/ScoringFiles/PGS019047.txt.gz | |
| PGS019048 (TPMI_366_MegaPRS) |
PGP000835 | Chen HH et al. Nature (2025) |
Cataract | cataract | 34,086 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019048/ScoringFiles/PGS019048.txt.gz | |
| PGS019049 (TPMI_366_PRS-CS) |
PGP000835 | Chen HH et al. Nature (2025) |
Cataract | cataract | 983,827 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019049/ScoringFiles/PGS019049.txt.gz | |
| PGS019050 (TPMI_366_SBayesR) |
PGP000835 | Chen HH et al. Nature (2025) |
Cataract | cataract | 918,007 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019050/ScoringFiles/PGS019050.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM009005 | PGS001302 (GBE_HC25) |
PSS004379| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Cataract | — | AUROC: 0.81842 [0.80148, 0.83536] | R²: 0.25176 Incremental AUROC (full-covars): -0.00057 PGS R2 (no covariates): 0.00041 PGS AUROC (no covariates): 0.51203 [0.48858, 0.53548] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009006 | PGS001302 (GBE_HC25) |
PSS004380| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Cataract | — | AUROC: 0.81531 [0.78353, 0.84709] | R²: 0.22081 Incremental AUROC (full-covars): 0.00025 PGS R2 (no covariates): 0.00037 PGS AUROC (no covariates): 0.48894 [0.43818, 0.53971] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009007 | PGS001302 (GBE_HC25) |
PSS004381| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Cataract | — | AUROC: 0.76448 [0.75374, 0.77523] | R²: 0.14636 Incremental AUROC (full-covars): 0.00517 PGS R2 (no covariates): 0.00768 PGS AUROC (no covariates): 0.56031 [0.5466, 0.57402] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009008 | PGS001302 (GBE_HC25) |
PSS004382| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Cataract | — | AUROC: 0.81674 [0.80411, 0.82937] | R²: 0.28207 Incremental AUROC (full-covars): 0.0031 PGS R2 (no covariates): 0.00627 PGS AUROC (no covariates): 0.54731 [0.52945, 0.56518] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009009 | PGS001302 (GBE_HC25) |
PSS004383| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Cataract | — | AUROC: 0.73692 [0.73039, 0.74345] | R²: 0.12068 Incremental AUROC (full-covars): 0.00566 PGS R2 (no covariates): 0.00657 PGS AUROC (no covariates): 0.55468 [0.5465, 0.56286] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM018448 | PGS001302 (GBE_HC25) |
PSS010980| European Ancestry| 4,797 individuals |
PGP000467 | Farré X et al. Genes (Basel) (2023) |Ext. |
Reported Trait: Eye colour | β: 0.11584 | — | R²: 0.01115 | — | — |
| PPM018449 | PGS001302 (GBE_HC25) |
PSS010980| European Ancestry| 4,797 individuals |
PGP000467 | Farré X et al. Genes (Basel) (2023) |Ext. |
Reported Trait: Sunscreen in exterior | β: -0.03314 | — | R²: 0.0383 | — | — |
| PPM018450 | PGS001302 (GBE_HC25) |
PSS010980| European Ancestry| 4,797 individuals |
PGP000467 | Farré X et al. Genes (Basel) (2023) |Ext. |
Reported Trait: Phototype score | β: 0.70812 | — | R²: 0.03441 | — | — |
| PPM018451 | PGS001302 (GBE_HC25) |
PSS010980| European Ancestry| 4,797 individuals |
PGP000467 | Farré X et al. Genes (Basel) (2023) |Ext. |
Reported Trait: Fitzpatrick scale | β: 0.04334 | — | R²: 0.03185 | — | — |
| PPM009010 | PGS001303 (GBE_HC872) |
PSS004677| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE other cataract | — | AUROC: 0.81396 [0.7961, 0.83182] | R²: 0.23163 Incremental AUROC (full-covars): 5e-05 PGS R2 (no covariates): 0.00013 PGS AUROC (no covariates): 0.50326 [0.47798, 0.52854] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009011 | PGS001303 (GBE_HC872) |
PSS004678| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE other cataract | — | AUROC: 0.81597 [0.77997, 0.85198] | R²: 0.21513 Incremental AUROC (full-covars): 0.00031 PGS R2 (no covariates): 0.00012 PGS AUROC (no covariates): 0.50879 [0.45096, 0.56661] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009012 | PGS001303 (GBE_HC872) |
PSS004679| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE other cataract | — | AUROC: 0.75268 [0.74071, 0.76465] | R²: 0.12486 Incremental AUROC (full-covars): 0.00345 PGS R2 (no covariates): 0.00455 PGS AUROC (no covariates): 0.5485 [0.53327, 0.56373] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009013 | PGS001303 (GBE_HC872) |
PSS004680| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE other cataract | — | AUROC: 0.79821 [0.78425, 0.81216] | R²: 0.23261 Incremental AUROC (full-covars): 0.00152 PGS R2 (no covariates): 0.00238 PGS AUROC (no covariates): 0.52897 [0.51011, 0.54783] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009014 | PGS001303 (GBE_HC872) |
PSS004681| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE other cataract | — | AUROC: 0.72387 [0.71653, 0.73121] | R²: 0.09993 Incremental AUROC (full-covars): 0.00356 PGS R2 (no covariates): 0.0043 PGS AUROC (no covariates): 0.54593 [0.53685, 0.555] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009592 | PGS001837 (portability-PLR_366) |
PSS007754| African Ancestry| 2,484 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): -0.0371 [-0.0765, 0.0023] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009587 | PGS001837 (portability-PLR_366) |
PSS009081| European Ancestry| 4,136 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0813 [0.0508, 0.1115] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009588 | PGS001837 (portability-PLR_366) |
PSS008635| European Ancestry| 6,660 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0642 [0.0402, 0.0881] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009589 | PGS001837 (portability-PLR_366) |
PSS008409| Greater Middle Eastern Ancestry| 1,200 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0028 [-0.0543, 0.0598] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009590 | PGS001837 (portability-PLR_366) |
PSS008189| South Asian Ancestry| 6,331 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.078 [0.0534, 0.1025] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009591 | PGS001837 (portability-PLR_366) |
PSS007972| East Asian Ancestry| 1,810 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0018 [-0.0445, 0.0482] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009593 | PGS001837 (portability-PLR_366) |
PSS008859| African Ancestry| 3,924 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0161 [-0.0153, 0.0474] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009586 | PGS001837 (portability-PLR_366) |
PSS009307| European Ancestry| 20,000 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0436 [0.0297, 0.0574] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011216 | PGS002044 (portability-ldpred2_366) |
PSS009307| European Ancestry| 20,000 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0497 [0.0359, 0.0635] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011217 | PGS002044 (portability-ldpred2_366) |
PSS009081| European Ancestry| 4,136 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0835 [0.0531, 0.1137] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011218 | PGS002044 (portability-ldpred2_366) |
PSS008635| European Ancestry| 6,660 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0633 [0.0393, 0.0873] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011219 | PGS002044 (portability-ldpred2_366) |
PSS008409| Greater Middle Eastern Ancestry| 1,200 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.011 [-0.0461, 0.068] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011220 | PGS002044 (portability-ldpred2_366) |
PSS008189| South Asian Ancestry| 6,331 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.09 [0.0654, 0.1144] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011222 | PGS002044 (portability-ldpred2_366) |
PSS007754| African Ancestry| 2,484 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): -0.0166 [-0.0561, 0.0229] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011223 | PGS002044 (portability-ldpred2_366) |
PSS008859| African Ancestry| 3,924 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): 0.0213 [-0.0101, 0.0526] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011221 | PGS002044 (portability-ldpred2_366) |
PSS007972| East Asian Ancestry| 1,810 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Cataract | — | — | Partial Correlation (partial-r): -0.0104 [-0.0567, 0.0359] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM020569 | PGS004454 (disease.H26.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: H26 (Other cataract) | OR: 1.12821 | — | — | — | — |
| PPM020639 | PGS004524 (meta.H26.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: H26 (Other cataract) | OR: 1.12178 | — | — | — | — |
| PPM022362 | PGS005142 (Cataract (PRS-CS; EAS)) |
PSS011926| East Asian Ancestry| 58,629 individuals |
PGP000704 | Jung HU et al. Commun Biol (2025) |
Reported Trait: Cataract | β: 1.08231 | — | — | age, sex | — |
| PPM022369 | PGS005149 (Cataract (PRS-CSx; EAS+EUR)) |
PSS011926| East Asian Ancestry| 58,629 individuals |
PGP000704 | Jung HU et al. Commun Biol (2025) |
Reported Trait: Cataract | β: 1.08426 | — | — | age, sex | — |
| PPM037228 | PGS019046 (TPMI_366_Lassosum2) |
PSS012949| East Asian Ancestry| 19,293 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Cataract | — | AUROC: 0.58738 | R²: 0.02441 | sex, age, array, PCs 1-10 | — |
| PPM037229 | PGS019047 (TPMI_366_LDpred2) |
PSS012948| East Asian Ancestry| 19,293 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Cataract | — | AUROC: 0.58741 | R²: 0.02444 | sex, age, array, PCs 1-10 | — |
| PPM037230 | PGS019048 (TPMI_366_MegaPRS) |
PSS012950| East Asian Ancestry| 19,293 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Cataract | — | AUROC: 0.58721 | R²: 0.02438 | sex, age, array, PCs 1-10 | — |
| PPM037231 | PGS019049 (TPMI_366_PRS-CS) |
PSS012951| East Asian Ancestry| 19,293 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Cataract | — | AUROC: 0.58729 | R²: 0.02438 | sex, age, array, PCs 1-10 | — |
| PPM037232 | PGS019050 (TPMI_366_SBayesR) |
PSS012952| East Asian Ancestry| 19,293 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Cataract | — | AUROC: 0.58737 | R²: 0.02444 | sex, age, array, PCs 1-10 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS007754 | — | — | 2,484 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
| PSS004677 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004678 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004679 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004680 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004681 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS008409 | — | — | 1,200 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
| PSS009307 | — | — | 20,000 individuals | — | European | UK (+ Ireland) | UKB | — |
| PSS012949 | 366, 998.82, V43.1, V45.61,E08.36, E09.36, E10.36, E11.36, H25, H26, H28, H59.02, Z96.1, Z98.4 | — | [ ,
46.06 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012948 | 366, 998.82, V43.1, V45.61,E08.36, E09.36, E10.36, E11.36, H25, H26, H28, H59.02, Z96.1, Z98.4 | — | [ ,
46.06 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012950 | 366, 998.82, V43.1, V45.61,E08.36, E09.36, E10.36, E11.36, H25, H26, H28, H59.02, Z96.1, Z98.4 | — | [ ,
46.06 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012951 | 366, 998.82, V43.1, V45.61,E08.36, E09.36, E10.36, E11.36, H25, H26, H28, H59.02, Z96.1, Z98.4 | — | [ ,
46.06 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012952 | 366, 998.82, V43.1, V45.61,E08.36, E09.36, E10.36, E11.36, H25, H26, H28, H59.02, Z96.1, Z98.4 | — | [ ,
46.06 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS009081 | — | — | 4,136 individuals | — | European | Poland (NE Europe) | UKB | — |
| PSS011926 | — | — | [
|
— | East Asian (Korean) |
— | HEXA | — |
| PSS008189 | — | — | 6,331 individuals | — | South Asian | India (South Asia) | UKB | — |
| PSS008859 | — | — | 3,924 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
| PSS011364 | — | — | 56,192 individuals | — | European | — | UKB | — |
| PSS004379 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004380 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004381 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004382 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004383 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS007972 | — | — | 1,810 individuals | — | East Asian | China (East Asia) | UKB | — |
| PSS010980 | — | — | 4,797 individuals | — | European | — | NR | GCAT |
| PSS008635 | — | — | 6,660 individuals | — | European | Italy (South Europe) | UKB | — |