PGS Catalog - refractive error measurement [EFO:0007814] (Polygenic Trait)

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)
PGS001099 (GBE_INI5085)	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Spherical power (left eye)	refractive error measurement	6,639	-	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001099/ScoringFiles/PGS001099.txt.gz
PGS001100 (GBE_INI5084)	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Spherical power (right eye)	refractive error measurement	7,350	-	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001100/ScoringFiles/PGS001100.txt.gz
PGS003860 (PGS_RE)	PGP000498 \| Clark R et al. EBioMedicine (2023)	Refractive error	refractive error measurement	767,867		https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003860/ScoringFiles/PGS003860.txt.gz - Check Terms/Licenses

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
PPM008234	PGS001099 (GBE_INI5085)	PSS007371\| African Ancestry\| 3,300 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (L)	—	—	R²: 0.04061 [0.03121, 0.05001] Incremental R2 (full-covars): 0.00835 PGS R2 (no covariates): 0.01458 [0.00879, 0.02036]	age, sex, UKB array type, Genotype PCs	—
PPM008235	PGS001099 (GBE_INI5085)	PSS007372\| East Asian Ancestry\| 596 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (L)	—	—	R²: 0.09829 [0.0715, 0.12508] Incremental R2 (full-covars): 0.01659 PGS R2 (no covariates): 0.0261 [0.01119, 0.04101]	age, sex, UKB array type, Genotype PCs	—
PPM008236	PGS001099 (GBE_INI5085)	PSS007373\| European Ancestry\| 7,900 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (L)	—	—	R²: 0.10172 [0.09461, 0.10884] Incremental R2 (full-covars): 0.07033 PGS R2 (no covariates): 0.0711 [0.06495, 0.07725]	age, sex, UKB array type, Genotype PCs	—
PPM008237	PGS001099 (GBE_INI5085)	PSS007374\| South Asian Ancestry\| 3,648 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (L)	—	—	R²: 0.05929 [0.04915, 0.06943] Incremental R2 (full-covars): 0.03026 PGS R2 (no covariates): 0.03238 [0.02467, 0.04009]	age, sex, UKB array type, Genotype PCs	—
PPM008238	PGS001099 (GBE_INI5085)	PSS007375\| European Ancestry\| 16,473 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (L)	—	—	R²: 0.11149 [0.10701, 0.11597] Incremental R2 (full-covars): 0.09163 PGS R2 (no covariates): 0.09194 [0.08779, 0.0961]	age, sex, UKB array type, Genotype PCs	—
PPM008239	PGS001100 (GBE_INI5084)	PSS007366\| African Ancestry\| 3,314 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (R)	—	—	R²: 0.03542 [0.02659, 0.04424] Incremental R2 (full-covars): 0.00616 PGS R2 (no covariates): 0.01203 [0.00676, 0.0173]	age, sex, UKB array type, Genotype PCs	—
PPM008240	PGS001100 (GBE_INI5084)	PSS007367\| East Asian Ancestry\| 597 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (R)	—	—	R²: 0.1128 [0.08456, 0.14104] Incremental R2 (full-covars): 0.02771 PGS R2 (no covariates): 0.03839 [0.02053, 0.05624]	age, sex, UKB array type, Genotype PCs	—
PPM008241	PGS001100 (GBE_INI5084)	PSS007368\| European Ancestry\| 7,920 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (R)	—	—	R²: 0.10687 [0.09962, 0.11412] Incremental R2 (full-covars): 0.07031 PGS R2 (no covariates): 0.0711 [0.06495, 0.07725]	age, sex, UKB array type, Genotype PCs	—
PPM008242	PGS001100 (GBE_INI5084)	PSS007369\| South Asian Ancestry\| 3,663 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (R)	—	—	R²: 0.06585 [0.05523, 0.07646] Incremental R2 (full-covars): 0.0281 PGS R2 (no covariates): 0.03071 [0.02319, 0.03823]	age, sex, UKB array type, Genotype PCs	—
PPM008243	PGS001100 (GBE_INI5084)	PSS007370\| European Ancestry\| 16,545 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: Spherical power (R)	—	—	R²: 0.11691 [0.11236, 0.12147] Incremental R2 (full-covars): 0.0945 PGS R2 (no covariates): 0.09518 [0.09097, 0.0994]	age, sex, UKB array type, Genotype PCs	—
PPM018722	PGS003860 (PGS_RE)	PSS011080\| European Ancestry\| 6,000 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Low myopia	—	AUROC: 0.728 [0.715, 0.741]	—	—	—
PPM018736	PGS003860 (PGS_RE)	PSS011083\| South Asian Ancestry\| 4,641 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM6)	—	AUROC: 0.706 [0.668, 0.743]	—	—	—
PPM018723	PGS003860 (PGS_RE)	PSS011078\| African Ancestry\| 4,089 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Low myopia	—	AUROC: 0.582 [0.563, 0.601]	—	—	—
PPM018725	PGS003860 (PGS_RE)	PSS011079\| East Asian Ancestry\| 978 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Low myopia	—	AUROC: 0.653 [0.619, 0.687]	—	—	—
PPM018726	PGS003860 (PGS_RE)	PSS011080\| European Ancestry\| 6,000 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate myopia	—	AUROC: 0.754 [0.738, 0.77]	—	—	—
PPM018727	PGS003860 (PGS_RE)	PSS011078\| African Ancestry\| 4,089 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate myopia	—	AUROC: 0.596 [0.566, 0.626]	—	—	—
PPM018728	PGS003860 (PGS_RE)	PSS011083\| South Asian Ancestry\| 4,641 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate myopia	—	AUROC: 0.686 [0.664, 0.708]	—	—	—
PPM018737	PGS003860 (PGS_RE)	PSS011079\| East Asian Ancestry\| 978 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM6)	—	AUROC: 0.672 [0.619, 0.724]	—	—	—
PPM018739	PGS003860 (PGS_RE)	PSS011081\| European Ancestry\| 1,649 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.141 [0.112, 0.171]	—	—
PPM018729	PGS003860 (PGS_RE)	PSS011079\| East Asian Ancestry\| 978 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate myopia	—	AUROC: 0.66 [0.621, 0.699]	—	—	—
PPM018731	PGS003860 (PGS_RE)	PSS011078\| African Ancestry\| 4,089 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM5)	—	AUROC: 0.586 [0.542, 0.629]	—	—	—
PPM018740	PGS003860 (PGS_RE)	PSS011082\| European Ancestry\| 1,277 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate hyperopia	—	AUROC: 0.765 [0.695, 0.825]	—	—	—
PPM018741	PGS003860 (PGS_RE)	PSS011081\| European Ancestry\| 1,649 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate hyperopia	—	AUROC: 0.774 [0.698, 0.845]	—	—	—
PPM018732	PGS003860 (PGS_RE)	PSS011083\| South Asian Ancestry\| 4,641 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM5)	—	AUROC: 0.695 [0.664, 0.726]	—	—	—
PPM018735	PGS003860 (PGS_RE)	PSS011078\| African Ancestry\| 4,089 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM6)	—	AUROC: 0.584 [0.53, 0.639]	—	—	—
PPM018714	PGS003860 (PGS_RE)	PSS011080\| European Ancestry\| 6,000 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.19 [0.172, 0.208]	—	—
PPM018715	PGS003860 (PGS_RE)	PSS011078\| African Ancestry\| 4,089 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.02 [0.012, 0.029]	—	—
PPM018716	PGS003860 (PGS_RE)	PSS011083\| South Asian Ancestry\| 4,641 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.08 [0.066, 0.096]	—	—
PPM018717	PGS003860 (PGS_RE)	PSS011079\| East Asian Ancestry\| 978 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.06 [0.034, 0.092]	—	—
PPM018718	PGS003860 (PGS_RE)	PSS011080\| European Ancestry\| 6,000 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate hyperopia	—	AUROC: 0.742 [0.718, 0.766]	—	—	—
PPM018719	PGS003860 (PGS_RE)	PSS011078\| African Ancestry\| 4,089 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate hyperopia	—	AUROC: 0.61 [0.543, 0.677]	—	—	—
PPM018720	PGS003860 (PGS_RE)	PSS011083\| South Asian Ancestry\| 4,641 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate hyperopia	—	AUROC: 0.676 [0.631, 0.721]	—	—	—
PPM018721	PGS003860 (PGS_RE)	PSS011079\| East Asian Ancestry\| 978 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate hyperopia	—	AUROC: 0.61 [0.415, 0.805]	—	—	—
PPM018733	PGS003860 (PGS_RE)	PSS011079\| East Asian Ancestry\| 978 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM5)	—	AUROC: 0.648 [0.601, 0.694]	—	—	—
PPM018734	PGS003860 (PGS_RE)	PSS011080\| European Ancestry\| 6,000 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM6)	—	AUROC: 0.783 [0.754, 0.812]	—	—	—
PPM018724	PGS003860 (PGS_RE)	PSS011083\| South Asian Ancestry\| 4,641 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Low myopia	—	AUROC: 0.647 [0.631, 0.664]	—	—	—
PPM018730	PGS003860 (PGS_RE)	PSS011080\| European Ancestry\| 6,000 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM5)	—	AUROC: 0.774 [0.75, 0.798]	—	—	—
PPM018738	PGS003860 (PGS_RE)	PSS011082\| European Ancestry\| 1,277 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.116 [0.079, 0.153]	—	—
PPM018742	PGS003860 (PGS_RE)	PSS011082\| European Ancestry\| 1,277 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Low myopia	—	AUROC: 0.703 [0.654, 0.751]	—	—	—
PPM018743	PGS003860 (PGS_RE)	PSS011081\| European Ancestry\| 1,649 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Low myopia	—	AUROC: 0.691 [0.659, 0.722]	—	—	—
PPM018744	PGS003860 (PGS_RE)	PSS011082\| European Ancestry\| 1,277 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate myopia	—	AUROC: 0.735 [0.6, 0.854]	—	—	—
PPM018745	PGS003860 (PGS_RE)	PSS011081\| European Ancestry\| 1,649 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Moderate myopia	—	AUROC: 0.691 [0.624, 0.754]	—	—	—
PPM018746	PGS003860 (PGS_RE)	PSS011082\| European Ancestry\| 1,277 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM5)	—	AUROC: 0.579 [0.567, 0.592]	—	—	—
PPM018747	PGS003860 (PGS_RE)	PSS011081\| European Ancestry\| 1,649 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM6)	—	AUROC: 0.739 [0.619, 0.851]	—	—	—
PPM018748	PGS003860 (PGS_RE)	PSS011081\| European Ancestry\| 1,649 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: High myopia (HM6)	—	AUROC: 0.783 [0.754, 0.812]	—	—	—
PPM018749	PGS003860 (PGS_RE)	PSS011089\| Ancestry Not Reported\| 6,119 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.05 [0.04, 0.06]	—	—
PPM018750	PGS003860 (PGS_RE)	PSS011088\| Ancestry Not Reported\| 4,037 individuals	PGP000498 \| Clark R et al. EBioMedicine (2023)	Reported Trait: Refractive error	—	—	R²: 0.12 [0.1, 0.14]	—	—

Evaluated Samples

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
PSS011078	—	—	4,089 individuals	—	African unspecified	—	UKB	—
PSS011079	—	—	978 individuals	—	East Asian	—	UKB	—
PSS011080	—	—	6,000 individuals	—	European	—	UKB	—
PSS011081	—	—	1,649 individuals, 48.7 % Male samples	Mean = 13.62 years Sd = 0.36 years	European	—	Generation_R	—
PSS011082	—	—	1,277 individuals, 50.4 % Male samples	Mean = 9.83 years Sd = 0.35 years	European	—	Generation_R	—
PSS011083	—	—	4,641 individuals	—	South Asian	—	UKB	—
PSS007366	—	—	3,314 individuals	—	African unspecified	—	UKB	—
PSS007367	—	—	597 individuals	—	East Asian	—	UKB	—
PSS007368	—	—	7,920 individuals	—	European	non-white British ancestry	UKB	—
PSS007369	—	—	3,663 individuals	—	South Asian	—	UKB	—
PSS007370	—	—	16,545 individuals	—	European	white British ancestry	UKB	Testing cohort (heldout set)
PSS007371	—	—	3,300 individuals	—	African unspecified	—	UKB	—
PSS007372	—	—	596 individuals	—	East Asian	—	UKB	—
PSS007373	—	—	7,900 individuals	—	European	non-white British ancestry	UKB	—
PSS007374	—	—	3,648 individuals	—	South Asian	—	UKB	—
PSS007375	—	—	16,473 individuals	—	European	white British ancestry	UKB	Testing cohort (heldout set)
PSS011089	—	—	6,119 individuals, 50.7 % Male samples	Mean = 7.53 years Sd = 0.31 years	Not reported	—	ALSPAC	—
PSS011088	—	—	4,037 individuals, 47.2 % Male samples	Mean = 15.43 years Sd = 0.28 years	Not reported	—	ALSPAC	—

Experimental Factor Ontology (EFO) Information
Identifier	EFO_0007814
Description	quantification of some aspect of refractive errors, which occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors. Quantification of an individual's refractive error allows the establishemnt of a number of corrective parameters such as spherical equivalent, lens decentration and transposition
Trait category	Other measurement

Trait: refractive error measurement

Associated Polygenic Score(s)

Performance Metrics

Evaluated Samples