Trait: retinal degeneration

Trait Information
Identifier MONDO_0004580
Description Degeneration of the retina. [NCIT: C34979]
Trait category
Other trait
Synonyms 2 synonyms
  • retina degeneration
  • retina, Degeneration Of
Child trait(s) 3 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "retinal degeneration" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS001013
(GBE_BIN_FC5006148)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Macular degeneration macular degeneration 53
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001013/ScoringFiles/PGS001013.txt.gz
PGS001834
(portability-PLR_362.29)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Macular degeneration (senile) of retina NOS age-related macular degeneration 157
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001834/ScoringFiles/PGS001834.txt.gz
PGS002041
(portability-ldpred2_362.29)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Macular degeneration (senile) of retina NOS age-related macular degeneration 116,538
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002041/ScoringFiles/PGS002041.txt.gz
PGS002269
(PRS47_AMD)
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Age-related macular degeneration age-related macular degeneration 47
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002269/ScoringFiles/PGS002269.txt.gz
PGS004606
(AMD-IAMDGC-EUR)
 PGP000582 |
Gorman BR et al. Nat Genet (2024)
 Age-related macular degeneration age-related macular degeneration 1,000,946
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004606/ScoringFiles/PGS004606.txt.gz
PGS004607
(AMD-MVP-AFR)
 PGP000582 |
Gorman BR et al. Nat Genet (2024)
 Age-related macular degeneration age-related macular degeneration 1,067,520
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004607/ScoringFiles/PGS004607.txt.gz
PGS004952
(PRS52_AMD)
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Age-related macular degeneration age-related macular degeneration 52
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004952/ScoringFiles/PGS004952.txt.gz
PGS019016
(TPMI_362.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Degeneration of macula and posterior pole of retina degeneration of macula and posterior pole 4
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019016/ScoringFiles/PGS019016.txt.gz
PGS019017
(TPMI_362.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Degeneration of macula and posterior pole of retina degeneration of macula and posterior pole 314,377
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019017/ScoringFiles/PGS019017.txt.gz
PGS019018
(TPMI_362.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Degeneration of macula and posterior pole of retina degeneration of macula and posterior pole 34,660
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019018/ScoringFiles/PGS019018.txt.gz
PGS019019
(TPMI_362.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Degeneration of macula and posterior pole of retina degeneration of macula and posterior pole 983,766
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019019/ScoringFiles/PGS019019.txt.gz
PGS019020
(TPMI_362.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Degeneration of macula and posterior pole of retina degeneration of macula and posterior pole 1,008,320
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019020/ScoringFiles/PGS019020.txt.gz
PGS019021
(TPMI_362.6_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peripheral retinal degenerations retinal degeneration 107
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019021/ScoringFiles/PGS019021.txt.gz
PGS019022
(TPMI_362.6_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peripheral retinal degenerations retinal degeneration 939,860
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019022/ScoringFiles/PGS019022.txt.gz
PGS019023
(TPMI_362.6_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peripheral retinal degenerations retinal degeneration 24,607
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019023/ScoringFiles/PGS019023.txt.gz
PGS019024
(TPMI_362.6_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peripheral retinal degenerations retinal degeneration 983,802
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019024/ScoringFiles/PGS019024.txt.gz
PGS019025
(TPMI_362.6_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Peripheral retinal degenerations retinal degeneration 1,011,772
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019025/ScoringFiles/PGS019025.txt.gz
PGS019026
(TPMI_362.26_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular puckering of retina degeneration of macula and posterior pole 5,750
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019026/ScoringFiles/PGS019026.txt.gz
PGS019027
(TPMI_362.26_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular puckering of retina degeneration of macula and posterior pole 337,189
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019027/ScoringFiles/PGS019027.txt.gz
PGS019028
(TPMI_362.26_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular puckering of retina degeneration of macula and posterior pole 15,945
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019028/ScoringFiles/PGS019028.txt.gz
PGS019029
(TPMI_362.26_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular puckering of retina degeneration of macula and posterior pole 983,768
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019029/ScoringFiles/PGS019029.txt.gz
PGS019030
(TPMI_362.26_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular puckering of retina degeneration of macula and posterior pole 1,009,853
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019030/ScoringFiles/PGS019030.txt.gz
PGS019031
(TPMI_362.29_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular degeneration senile of retina NOS macular degeneration 222
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019031/ScoringFiles/PGS019031.txt.gz
PGS019032
(TPMI_362.29_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular degeneration senile of retina NOS macular degeneration 939,874
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019032/ScoringFiles/PGS019032.txt.gz
PGS019033
(TPMI_362.29_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular degeneration senile of retina NOS macular degeneration 21,742
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019033/ScoringFiles/PGS019033.txt.gz
PGS019034
(TPMI_362.29_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular degeneration senile of retina NOS macular degeneration 983,811
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019034/ScoringFiles/PGS019034.txt.gz
PGS019035
(TPMI_362.29_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Macular degeneration senile of retina NOS macular degeneration 1,000,676
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019035/ScoringFiles/PGS019035.txt.gz

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
PPM007828 PGS001013
(GBE_BIN_FC5006148)
 PSS003974|
African Ancestry|
3,196 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.7052 [0.63504, 0.77537] R²: 0.07369
Incremental AUROC (full-covars): -0.00271
PGS R2 (no covariates): 6e-05
PGS AUROC (no covariates): 0.50582 [0.43466, 0.57699]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007829 PGS001013
(GBE_BIN_FC5006148)
 PSS003975|
East Asian Ancestry|
711 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.90123 [0.8354, 0.96707] R²: 0.32752
Incremental AUROC (full-covars): -0.00016
PGS R2 (no covariates): 0.01068
PGS AUROC (no covariates): 0.59339 [0.45683, 0.72996]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007830 PGS001013
(GBE_BIN_FC5006148)
 PSS003976|
European Ancestry|
9,755 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.72878 [0.69745, 0.76011] R²: 0.07729
Incremental AUROC (full-covars): 0.00516
PGS R2 (no covariates): 0.00265
PGS AUROC (no covariates): 0.53845 [0.49847, 0.57843]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007831 PGS001013
(GBE_BIN_FC5006148)
 PSS003977|
South Asian Ancestry|
3,327 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.76624 [0.71098, 0.8215] R²: 0.10324
Incremental AUROC (full-covars): -0.00396
PGS R2 (no covariates): 0.00053
PGS AUROC (no covariates): 0.47169 [0.39626, 0.54712]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007832 PGS001013
(GBE_BIN_FC5006148)
 PSS003978|
European Ancestry|
22,208 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.70257 [0.6826, 0.72253] R²: 0.06704
Incremental AUROC (full-covars): 0.00573
PGS R2 (no covariates): 0.00599
PGS AUROC (no covariates): 0.55283 [0.52939, 0.57627]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009565 PGS001834
(portability-PLR_362.29)
 PSS009078|
European Ancestry|
4,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0258 [-0.0051, 0.0567] sex, age, birth date, deprivation index, 16 PCs —
PPM009566 PGS001834
(portability-PLR_362.29)
 PSS008632|
European Ancestry|
6,470 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0177 [-0.0067, 0.0421] sex, age, birth date, deprivation index, 16 PCs —
PPM009567 PGS001834
(portability-PLR_362.29)
 PSS008406|
Greater Middle Eastern Ancestry|
1,165 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.03 [-0.0877, 0.028] sex, age, birth date, deprivation index, 16 PCs —
PPM009568 PGS001834
(portability-PLR_362.29)
 PSS008186|
South Asian Ancestry|
6,037 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0368 [0.0116, 0.062] sex, age, birth date, deprivation index, 16 PCs —
PPM009569 PGS001834
(portability-PLR_362.29)
 PSS007970|
East Asian Ancestry|
1,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.0304 [-0.0771, 0.0164] sex, age, birth date, deprivation index, 16 PCs —
PPM009570 PGS001834
(portability-PLR_362.29)
 PSS007752|
African Ancestry|
2,374 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0015 [-0.0389, 0.0419] sex, age, birth date, deprivation index, 16 PCs —
PPM009571 PGS001834
(portability-PLR_362.29)
 PSS008856|
African Ancestry|
3,723 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0144 [-0.0178, 0.0466] sex, age, birth date, deprivation index, 16 PCs —
PPM009564 PGS001834
(portability-PLR_362.29)
 PSS009304|
European Ancestry|
19,413 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0175 [0.0034, 0.0315] sex, age, birth date, deprivation index, 16 PCs —
PPM011195 PGS002041
(portability-ldpred2_362.29)
 PSS009078|
European Ancestry|
4,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0248 [-0.0061, 0.0556] sex, age, birth date, deprivation index, 16 PCs —
PPM011196 PGS002041
(portability-ldpred2_362.29)
 PSS008632|
European Ancestry|
6,470 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0179 [-0.0065, 0.0423] sex, age, birth date, deprivation index, 16 PCs —
PPM011197 PGS002041
(portability-ldpred2_362.29)
 PSS008406|
Greater Middle Eastern Ancestry|
1,165 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.0344 [-0.0921, 0.0236] sex, age, birth date, deprivation index, 16 PCs —
PPM011198 PGS002041
(portability-ldpred2_362.29)
 PSS008186|
South Asian Ancestry|
6,037 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0372 [0.0119, 0.0624] sex, age, birth date, deprivation index, 16 PCs —
PPM011199 PGS002041
(portability-ldpred2_362.29)
 PSS007970|
East Asian Ancestry|
1,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.0312 [-0.0779, 0.0156] sex, age, birth date, deprivation index, 16 PCs —
PPM011200 PGS002041
(portability-ldpred2_362.29)
 PSS007752|
African Ancestry|
2,374 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0038 [-0.0366, 0.0442] sex, age, birth date, deprivation index, 16 PCs —
PPM011201 PGS002041
(portability-ldpred2_362.29)
 PSS008856|
African Ancestry|
3,723 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.018 [-0.0143, 0.0501] sex, age, birth date, deprivation index, 16 PCs —
PPM011194 PGS002041
(portability-ldpred2_362.29)
 PSS009304|
European Ancestry|
19,413 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0159 [0.0018, 0.0299] sex, age, birth date, deprivation index, 16 PCs —
PPM012920 PGS002269
(PRS47_AMD)
 PSS009618|
Multi-ancestry (including European)|
44,823 individuals
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Reported Trait: Rentinal layer thickness (photoreceptor inner and outer segments) β: -0.21 [-0.23, -0.19] — — Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry —
PPM012921 PGS002269
(PRS47_AMD)
 PSS009618|
Multi-ancestry (including European)|
44,823 individuals
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Reported Trait: Rentinal layer thickness (retinal pigment epithelium and Bruch’s membrane complex) β: -0.14 [-0.16, -0.12] — — Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry —
PPM012922 PGS002269
(PRS47_AMD)
 PSS009618|
Multi-ancestry (including European)|
44,823 individuals
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Reported Trait: Rentinal layer thickness (choroid-sclera interface) β: -0.03 [-0.06, -0.01] — — Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry —
PPM020767 PGS004606
(AMD-IAMDGC-EUR)
 PSS011398|
European Ancestry|
163,011 individuals
 PGP000582 |
Gorman BR et al. Nat Genet (2024)
 Reported Trait: Age-related macular degeneration OR: 1.76 [1.73, 1.78] AUROC: 0.71 — age, sex, principal components 1-10 —
PPM020768 PGS004607
(AMD-MVP-AFR)
 PSS011398|
European Ancestry|
163,011 individuals
 PGP000582 |
Gorman BR et al. Nat Genet (2024)
 Reported Trait: Age-related macular degeneration OR: 1.48 [1.34, 1.63] AUROC: 0.65 — age, sex, principal components 1-10 —
PPM021759 PGS004952
(PRS52_AMD)
 PSS011783|
European Ancestry|
1,575 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Early age-related macular degeneration (Clinical Classification) OR: 1.13 [1.09, 1.16] AUROC: 64.2 — Age, sex, survey membership, 10 PCs —
PPM021760 PGS004952
(PRS52_AMD)
 PSS011784|
European Ancestry|
1,511 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Intermediate age-related macular degeneration (Clinical Classification) OR: 1.25 [1.2, 1.29] AUROC: 73.3 — Age, sex, survey membership, 10 PCs —
PPM021761 PGS004952
(PRS52_AMD)
 PSS011785|
European Ancestry|
1,232 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Late age-related macular degeneration (Clinical Classification) OR: 1.41 [1.32, 1.5] AUROC: 84.2 — Age, sex, survey membership, 10 PCs —
PPM021762 PGS004952
(PRS52_AMD)
 PSS011786|
European Ancestry|
1,780 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Mild early age-related macular degeneration (3CACSS) OR: 1.08 [1.04, 1.13] AUROC: 59.9 — Age, sex, survey membership, 10 PCs —
PPM021763 PGS004952
(PRS52_AMD)
 PSS011787|
European Ancestry|
1,696 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Moderate early age-related macular degeneration (3CACSS) OR: 1.29 [1.22, 1.37] AUROC: 76.3 — Age, sex, survey membership, 10 PCs —
PPM021764 PGS004952
(PRS52_AMD)
 PSS011788|
European Ancestry|
1,699 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Severe early age-related macular degeneration (3CACSS) OR: 1.38 [1.29, 1.47] AUROC: 80.95 — Age, sex, survey membership, 10 PCs —
PPM037198 PGS019016
(TPMI_362.2_Lassosum2)
 PSS012924|
East Asian Ancestry|
17,925 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Degeneration of macula and posterior pole of retina — AUROC: 0.58428 R²: 0.00842 sex, age, array, PCs 1-10 —
PPM037199 PGS019017
(TPMI_362.2_LDpred2)
 PSS012923|
East Asian Ancestry|
17,925 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Degeneration of macula and posterior pole of retina — AUROC: 0.58598 R²: 0.00867 sex, age, array, PCs 1-10 —
PPM037200 PGS019018
(TPMI_362.2_MegaPRS)
 PSS012925|
East Asian Ancestry|
17,925 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Degeneration of macula and posterior pole of retina — AUROC: 0.58426 R²: 0.00872 sex, age, array, PCs 1-10 —
PPM037201 PGS019019
(TPMI_362.2_PRS-CS)
 PSS012926|
East Asian Ancestry|
17,925 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Degeneration of macula and posterior pole of retina — AUROC: 0.58662 R²: 0.00887 sex, age, array, PCs 1-10 —
PPM037202 PGS019020
(TPMI_362.2_SBayesR)
 PSS012927|
East Asian Ancestry|
17,925 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Degeneration of macula and posterior pole of retina — AUROC: 0.58547 R²: 0.00857 sex, age, array, PCs 1-10 —
PPM037203 PGS019021
(TPMI_362.6_Lassosum2)
 PSS012929|
East Asian Ancestry|
17,530 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peripheral retinal degenerations — AUROC: 0.66601 R²: 0.00976 sex, age, array, PCs 1-10 —
PPM037204 PGS019022
(TPMI_362.6_LDpred2)
 PSS012928|
East Asian Ancestry|
17,530 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peripheral retinal degenerations — AUROC: 0.66588 R²: 0.00975 sex, age, array, PCs 1-10 —
PPM037205 PGS019023
(TPMI_362.6_MegaPRS)
 PSS012930|
East Asian Ancestry|
17,530 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peripheral retinal degenerations — AUROC: 0.66599 R²: 0.00976 sex, age, array, PCs 1-10 —
PPM037206 PGS019024
(TPMI_362.6_PRS-CS)
 PSS012931|
East Asian Ancestry|
17,530 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peripheral retinal degenerations — AUROC: 0.66592 R²: 0.00976 sex, age, array, PCs 1-10 —
PPM037207 PGS019025
(TPMI_362.6_SBayesR)
 PSS012932|
East Asian Ancestry|
17,530 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Peripheral retinal degenerations — AUROC: 0.66718 R²: 0.00993 sex, age, array, PCs 1-10 —
PPM037208 PGS019026
(TPMI_362.26_Lassosum2)
 PSS012914|
East Asian Ancestry|
17,554 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular puckering of retina — AUROC: 0.65845 R²: 0.00658 sex, age, array, PCs 1-10 —
PPM037209 PGS019027
(TPMI_362.26_LDpred2)
 PSS012913|
East Asian Ancestry|
17,554 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular puckering of retina — AUROC: 0.66467 R²: 0.00729 sex, age, array, PCs 1-10 —
PPM037210 PGS019028
(TPMI_362.26_MegaPRS)
 PSS012915|
East Asian Ancestry|
17,554 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular puckering of retina — AUROC: 0.65624 R²: 0.00642 sex, age, array, PCs 1-10 —
PPM037211 PGS019029
(TPMI_362.26_PRS-CS)
 PSS012916|
East Asian Ancestry|
17,554 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular puckering of retina — AUROC: 0.66164 R²: 0.00691 sex, age, array, PCs 1-10 —
PPM037212 PGS019030
(TPMI_362.26_SBayesR)
 PSS012917|
East Asian Ancestry|
17,554 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular puckering of retina — AUROC: 0.65794 R²: 0.00674 sex, age, array, PCs 1-10 —
PPM037213 PGS019031
(TPMI_362.29_Lassosum2)
 PSS012919|
East Asian Ancestry|
17,901 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular degeneration senile of retina NOS — AUROC: 0.59018 R²: 0.00782 sex, age, array, PCs 1-10 —
PPM037214 PGS019032
(TPMI_362.29_LDpred2)
 PSS012918|
East Asian Ancestry|
17,901 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular degeneration senile of retina NOS — AUROC: 0.59322 R²: 0.00832 sex, age, array, PCs 1-10 —
PPM037215 PGS019033
(TPMI_362.29_MegaPRS)
 PSS012920|
East Asian Ancestry|
17,901 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular degeneration senile of retina NOS — AUROC: 0.58856 R²: 0.00791 sex, age, array, PCs 1-10 —
PPM037216 PGS019034
(TPMI_362.29_PRS-CS)
 PSS012921|
East Asian Ancestry|
17,901 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular degeneration senile of retina NOS — AUROC: 0.5911 R²: 0.00806 sex, age, array, PCs 1-10 —
PPM037217 PGS019035
(TPMI_362.29_SBayesR)
 PSS012922|
East Asian Ancestry|
17,901 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Macular degeneration senile of retina NOS — AUROC: 0.59257 R²: 0.00812 sex, age, array, PCs 1-10 —

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
PSS012925 362.5,H35.3 —
[
  • 563 cases
  • , 17,362 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012926 362.5,H35.3 —
[
  • 563 cases
  • , 17,362 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012927 362.5,H35.3 —
[
  • 563 cases
  • , 17,362 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012928 362.6,H35.4 —
[
  • 168 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007752 — — 2,374 individuals — African American or Afro-Caribbean Carribean UKB —
PSS012929 362.6,H35.4 —
[
  • 168 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012930 362.6,H35.4 —
[
  • 168 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012931 362.6,H35.4 —
[
  • 168 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012932 362.6,H35.4 —
[
  • 168 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008406 — — 1,165 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009304 — — 19,413 individuals — European UK (+ Ireland) UKB —
PSS011783 — —
[
  • 510 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011784 — —
[
  • 446 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011785 — —
[
  • 167 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011786 — —
[
  • 203 cases
  • , 1,577 controls
]
 — European — AugUR —
PSS011787 — —
[
  • 119 cases
  • , 1,577 controls
]
 — European — AugUR —
PSS011398 ICD-9-CM codes 362.51 or 362.52; ICD-10-CM codes H35.31 or H35.32 —
[
  • 32,567 cases
  • , 130,444 controls
]
,
97.0 % Male samples
 — European — MVP —
PSS011788 — —
[
  • 122 cases
  • , 1,577 controls
]
 — European — AugUR —
PSS009078 — — 4,043 individuals — European Poland (NE Europe) UKB —
PSS008186 — — 6,037 individuals — South Asian India (South Asia) UKB —
PSS003974 — —
[
  • 68 cases
  • , 3,128 controls
]
 — African unspecified — UKB —
PSS003975 — —
[
  • 18 cases
  • , 693 controls
]
 — East Asian — UKB —
PSS003976 — —
[
  • 235 cases
  • , 9,520 controls
]
 — European non-white British ancestry UKB —
PSS003977 — —
[
  • 63 cases
  • , 3,264 controls
]
 — South Asian — UKB —
PSS003978 — —
[
  • 637 cases
  • , 21,571 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008856 — — 3,723 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007970 — — 1,775 individuals — East Asian China (East Asia) UKB —
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment — 44,253 individuals — European — UKB —
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment — 40 individuals — South Asian — UKB —
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment — 530 individuals — Not reported — UKB —
PSS012916 362.56,H35.37 —
[
  • 192 cases
  • , 17,362 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008632 — — 6,470 individuals — European Italy (South Europe) UKB —
PSS012914 362.56,H35.37 —
[
  • 192 cases
  • , 17,362 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012913 362.56,H35.37 —
[
  • 192 cases
  • , 17,362 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012915 362.56,H35.37 —
[
  • 192 cases
  • , 17,362 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012917 362.56,H35.37 —
[
  • 192 cases
  • , 17,362 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012918 362.50,H35.3 —
[
  • 539 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012919 362.50,H35.3 —
[
  • 539 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012920 362.50,H35.3 —
[
  • 539 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012921 362.50,H35.3 —
[
  • 539 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012922 362.50,H35.3 —
[
  • 539 cases
  • , 17,362 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012923 362.5,H35.3 —
[
  • 563 cases
  • , 17,362 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012924 362.5,H35.3 —
[
  • 563 cases
  • , 17,362 controls
]
,
45.8 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —