Trait: perceptual disorders

Trait Information
Identifier MONDO_0024417
Description Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. [MESH: D010468]
Trait category
Other trait
Child trait(s) 8 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 PGS for child terms of "perceptual disorders" in the EFO hierarchy.
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)
PGS000762
(PRS_HD)
 PGP000165 |
Cherny SS et al. Eur J Hum Genet (2020)
 Hearing difficulty presbycusis 100,325
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000762/ScoringFiles/PGS000762.txt.gz
PGS000763
(PRS_HAID)
 PGP000165 |
Cherny SS et al. Eur J Hum Genet (2020)
 Hearing aid use presbycusis 4,270
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000763/ScoringFiles/PGS000763.txt.gz
PGS001252
(GBE_BIN_FC3002247)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Hearing difficulty and deafness deafness,
hearing loss disorder		 3,731
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001252/ScoringFiles/PGS001252.txt.gz
PGS001253
(GBE_BIN_FC1002247)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Hearing difficulty hearing loss disorder 3,098
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001253/ScoringFiles/PGS001253.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
PGS001891
(portability-PLR_bad_hearing)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hearing difficulty/problems hearing disorder 19,960
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001891/ScoringFiles/PGS001891.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
PGS002104
(portability-ldpred2_bad_hearing)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hearing difficulty/problems hearing disorder 869,179
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002104/ScoringFiles/PGS002104.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
PGS018414
(pgshl)
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Hearing loss (HL) hearing loss disorder 2,370,365
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018414/ScoringFiles/PGS018414.txt.gz
PGS019081
(TPMI_386_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Vertiginous syndromes and other disorders of vestibular system vestibular disorder 125,242
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019081/ScoringFiles/PGS019081.txt.gz
PGS019082
(TPMI_386_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Vertiginous syndromes and other disorders of vestibular system vestibular disorder 939,898
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019082/ScoringFiles/PGS019082.txt.gz
PGS019083
(TPMI_386_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Vertiginous syndromes and other disorders of vestibular system vestibular disorder 22,265
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019083/ScoringFiles/PGS019083.txt.gz
PGS019084
(TPMI_386_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Vertiginous syndromes and other disorders of vestibular system vestibular disorder 983,829
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019084/ScoringFiles/PGS019084.txt.gz
PGS019085
(TPMI_386_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Vertiginous syndromes and other disorders of vestibular system vestibular disorder 914,097
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019085/ScoringFiles/PGS019085.txt.gz
PGS019086
(TPMI_386.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Menieres disease Meniere disease 802,789
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019086/ScoringFiles/PGS019086.txt.gz
PGS019087
(TPMI_386.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Menieres disease Meniere disease 939,888
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019087/ScoringFiles/PGS019087.txt.gz
PGS019088
(TPMI_386.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Menieres disease Meniere disease 23,220
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019088/ScoringFiles/PGS019088.txt.gz
PGS019089
(TPMI_386.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Menieres disease Meniere disease 983,823
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019089/ScoringFiles/PGS019089.txt.gz
PGS019090
(TPMI_386.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Menieres disease Meniere disease 987,552
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019090/ScoringFiles/PGS019090.txt.gz
PGS019111
(TPMI_389_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hearing loss hearing loss disorder 409,744
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019111/ScoringFiles/PGS019111.txt.gz
PGS019112
(TPMI_389_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hearing loss hearing loss disorder 939,885
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019112/ScoringFiles/PGS019112.txt.gz
PGS019113
(TPMI_389_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hearing loss hearing loss disorder 531,934
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019113/ScoringFiles/PGS019113.txt.gz
PGS019114
(TPMI_389_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hearing loss hearing loss disorder 983,822
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019114/ScoringFiles/PGS019114.txt.gz
PGS019115
(TPMI_389_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hearing loss hearing loss disorder 928,045
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019115/ScoringFiles/PGS019115.txt.gz
PGS019116
(TPMI_389.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sensorineural hearing loss sensorineural hearing loss disorder 697,131
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019116/ScoringFiles/PGS019116.txt.gz
PGS019117
(TPMI_389.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sensorineural hearing loss sensorineural hearing loss disorder 939,879
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019117/ScoringFiles/PGS019117.txt.gz
PGS019118
(TPMI_389.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sensorineural hearing loss sensorineural hearing loss disorder 23,594
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019118/ScoringFiles/PGS019118.txt.gz
PGS019119
(TPMI_389.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sensorineural hearing loss sensorineural hearing loss disorder 983,819
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019119/ScoringFiles/PGS019119.txt.gz
PGS019120
(TPMI_389.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sensorineural hearing loss sensorineural hearing loss disorder 976,192
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019120/ScoringFiles/PGS019120.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
PPM001938 PGS000762
(PRS_HD)
 PSS000972|
European Ancestry|
3,636 individuals
 PGP000165 |
Cherny SS et al. Eur J Hum Genet (2020)
 Reported Trait: Hearing difficulties — — R²: 0.0911 Age, sex —
PPM001937 PGS000763
(PRS_HAID)
 PSS000971|
European Ancestry|
2,912 individuals
 PGP000165 |
Cherny SS et al. Eur J Hum Genet (2020)
 Reported Trait: Hearing aid use — — R²: 0.1923 Age, sex —
PPM008769 PGS001252
(GBE_BIN_FC3002247)
 PSS003899|
African Ancestry|
6,123 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty and Deafness — AUROC: 0.58635 [0.56411, 0.60859] R²: 0.01752
Incremental AUROC (full-covars): -0.00041
PGS R2 (no covariates): 0.00138
PGS AUROC (no covariates): 0.52307 [0.50054, 0.54561]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008770 PGS001252
(GBE_BIN_FC3002247)
 PSS003900|
East Asian Ancestry|
1,568 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty and Deafness — AUROC: 0.62777 [0.58865, 0.66688] R²: 0.04973
Incremental AUROC (full-covars): 0.00284
PGS R2 (no covariates): 0.00305
PGS AUROC (no covariates): 0.53516 [0.49316, 0.57716]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008771 PGS001252
(GBE_BIN_FC3002247)
 PSS003901|
European Ancestry|
23,697 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty and Deafness — AUROC: 0.62252 [0.61446, 0.63058] R²: 0.05132
Incremental AUROC (full-covars): 0.00531
PGS R2 (no covariates): 0.00527
PGS AUROC (no covariates): 0.53867 [0.53034, 0.54699]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008772 PGS001252
(GBE_BIN_FC3002247)
 PSS003902|
South Asian Ancestry|
7,266 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty and Deafness — AUROC: 0.61586 [0.5994, 0.63232] R²: 0.04282
Incremental AUROC (full-covars): 0.00304
PGS R2 (no covariates): 0.00345
PGS AUROC (no covariates): 0.53204 [0.5154, 0.54867]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008773 PGS001252
(GBE_BIN_FC3002247)
 PSS003903|
European Ancestry|
65,065 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty and Deafness — AUROC: 0.62548 [0.62074, 0.63023] R²: 0.05558
Incremental AUROC (full-covars): 0.00728
PGS R2 (no covariates): 0.00646
PGS AUROC (no covariates): 0.54216 [0.53723, 0.54709]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008774 PGS001253
(GBE_BIN_FC1002247)
 PSS003755|
African Ancestry|
6,121 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty — AUROC: 0.58714 [0.56491, 0.60938] R²: 0.01786
Incremental AUROC (full-covars): 0.00082
PGS R2 (no covariates): 0.00162
PGS AUROC (no covariates): 0.52504 [0.50255, 0.54753]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008775 PGS001253
(GBE_BIN_FC1002247)
 PSS003756|
East Asian Ancestry|
1,568 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty — AUROC: 0.62831 [0.58912, 0.6675] R²: 0.04992
Incremental AUROC (full-covars): 0.00338
PGS R2 (no covariates): 0.003
PGS AUROC (no covariates): 0.53605 [0.49383, 0.57827]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008776 PGS001253
(GBE_BIN_FC1002247)
 PSS003757|
European Ancestry|
23,689 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty — AUROC: 0.62276 [0.6147, 0.63082] R²: 0.0516
Incremental AUROC (full-covars): 0.00532
PGS R2 (no covariates): 0.00515
PGS AUROC (no covariates): 0.53825 [0.52992, 0.54658]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008777 PGS001253
(GBE_BIN_FC1002247)
 PSS003758|
South Asian Ancestry|
7,257 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty — AUROC: 0.61668 [0.60019, 0.63317] R²: 0.04334
Incremental AUROC (full-covars): 0.00291
PGS R2 (no covariates): 0.00324
PGS AUROC (no covariates): 0.53126 [0.51459, 0.54793]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008778 PGS001253
(GBE_BIN_FC1002247)
 PSS003759|
European Ancestry|
65,054 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hearing difficulty — AUROC: 0.62552 [0.62077, 0.63026] R²: 0.05561
Incremental AUROC (full-covars): 0.00726
PGS R2 (no covariates): 0.00632
PGS AUROC (no covariates): 0.54175 [0.53682, 0.54668]		 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 —
PPM010013 PGS001891
(portability-PLR_bad_hearing)
 PSS009161|
European Ancestry|
3,907 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0758 [0.0445, 0.107] sex, age, birth date, deprivation index, 16 PCs —
PPM010014 PGS001891
(portability-PLR_bad_hearing)
 PSS008715|
European Ancestry|
6,265 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0537 [0.0289, 0.0784] sex, age, birth date, deprivation index, 16 PCs —
PPM010015 PGS001891
(portability-PLR_bad_hearing)
 PSS008489|
Greater Middle Eastern Ancestry|
1,089 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0251 [-0.0349, 0.0849] sex, age, birth date, deprivation index, 16 PCs —
PPM010016 PGS001891
(portability-PLR_bad_hearing)
 PSS008267|
South Asian Ancestry|
5,858 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0738 [0.0482, 0.0993] sex, age, birth date, deprivation index, 16 PCs —
PPM010017 PGS001891
(portability-PLR_bad_hearing)
 PSS008045|
East Asian Ancestry|
1,684 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0734 [0.0254, 0.121] sex, age, birth date, deprivation index, 16 PCs —
PPM010018 PGS001891
(portability-PLR_bad_hearing)
 PSS007831|
African Ancestry|
2,325 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0133 [-0.0275, 0.0541] sex, age, birth date, deprivation index, 16 PCs —
PPM010019 PGS001891
(portability-PLR_bad_hearing)
 PSS008935|
African Ancestry|
3,691 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.011 [-0.0213, 0.0434] sex, age, birth date, deprivation index, 16 PCs —
PPM010012 PGS001891
(portability-PLR_bad_hearing)
 PSS009387|
European Ancestry|
19,161 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0921 [0.0781, 0.1062] 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 —
PPM011688 PGS002104
(portability-ldpred2_bad_hearing)
 PSS009387|
European Ancestry|
19,161 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.1065 [0.0925, 0.1205] sex, age, birth date, deprivation index, 16 PCs —
PPM011689 PGS002104
(portability-ldpred2_bad_hearing)
 PSS009161|
European Ancestry|
3,907 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0785 [0.0471, 0.1096] sex, age, birth date, deprivation index, 16 PCs —
PPM011690 PGS002104
(portability-ldpred2_bad_hearing)
 PSS008715|
European Ancestry|
6,265 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0784 [0.0537, 0.103] sex, age, birth date, deprivation index, 16 PCs —
PPM011691 PGS002104
(portability-ldpred2_bad_hearing)
 PSS008489|
Greater Middle Eastern Ancestry|
1,089 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0425 [-0.0175, 0.1022] sex, age, birth date, deprivation index, 16 PCs —
PPM011692 PGS002104
(portability-ldpred2_bad_hearing)
 PSS008267|
South Asian Ancestry|
5,858 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0702 [0.0446, 0.0956] sex, age, birth date, deprivation index, 16 PCs —
PPM011693 PGS002104
(portability-ldpred2_bad_hearing)
 PSS008045|
East Asian Ancestry|
1,684 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0612 [0.0132, 0.1089] sex, age, birth date, deprivation index, 16 PCs —
PPM011695 PGS002104
(portability-ldpred2_bad_hearing)
 PSS008935|
African Ancestry|
3,691 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): 0.0136 [-0.0187, 0.046] sex, age, birth date, deprivation index, 16 PCs —
PPM011694 PGS002104
(portability-ldpred2_bad_hearing)
 PSS007831|
African Ancestry|
2,325 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hearing difficulty/problems — — Partial Correlation (partial-r): -0.0054 [-0.0462, 0.0354] 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 —
PPM036591 PGS018414
(pgshl)
 PSS012317|
Multi-ancestry (including European)|
390 individuals
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Reported Trait: cisplatin-induced ototoxicity — — R²: 0.023
p-value: 0.00293		 — —
PPM036593 PGS018414
(pgshl)
 PSS012318|
Ancestry Not Reported|
238 individuals
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Reported Trait: cisplatin-induced ototoxicity — — R²: 0.006
p-value: 0.52		 age at diagnosis , protocol (SJMB96 or SJMB03) , 10 principal components , craniospinal irradiation dose (CSI dose)*score —
PPM037263 PGS019081
(TPMI_386_Lassosum2)
 PSS013009|
East Asian Ancestry|
19,232 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Vertiginous syndromes and other disorders of vestibular system — AUROC: 0.59319 R²: 0.03898 sex, age, array, PCs 1-10 —
PPM037264 PGS019082
(TPMI_386_LDpred2)
 PSS013008|
East Asian Ancestry|
19,232 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Vertiginous syndromes and other disorders of vestibular system — AUROC: 0.59425 R²: 0.04012 sex, age, array, PCs 1-10 —
PPM037265 PGS019083
(TPMI_386_MegaPRS)
 PSS013010|
East Asian Ancestry|
19,232 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Vertiginous syndromes and other disorders of vestibular system — AUROC: 0.59217 R²: 0.03816 sex, age, array, PCs 1-10 —
PPM037266 PGS019084
(TPMI_386_PRS-CS)
 PSS013011|
East Asian Ancestry|
19,232 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Vertiginous syndromes and other disorders of vestibular system — AUROC: 0.5934 R²: 0.0392 sex, age, array, PCs 1-10 —
PPM037267 PGS019085
(TPMI_386_SBayesR)
 PSS013012|
East Asian Ancestry|
19,232 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Vertiginous syndromes and other disorders of vestibular system — AUROC: 0.59204 R²: 0.03809 sex, age, array, PCs 1-10 —
PPM037268 PGS019086
(TPMI_386.1_Lassosum2)
 PSS012984|
East Asian Ancestry|
17,579 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Menieres disease — AUROC: 0.61707 R²: 0.01248 sex, age, array, PCs 1-10 —
PPM037269 PGS019087
(TPMI_386.1_LDpred2)
 PSS012983|
East Asian Ancestry|
17,579 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Menieres disease — AUROC: 0.61731 R²: 0.01262 sex, age, array, PCs 1-10 —
PPM037270 PGS019088
(TPMI_386.1_MegaPRS)
 PSS012985|
East Asian Ancestry|
17,579 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Menieres disease — AUROC: 0.61749 R²: 0.01255 sex, age, array, PCs 1-10 —
PPM037271 PGS019089
(TPMI_386.1_PRS-CS)
 PSS012986|
East Asian Ancestry|
17,579 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Menieres disease — AUROC: 0.61682 R²: 0.01254 sex, age, array, PCs 1-10 —
PPM037272 PGS019090
(TPMI_386.1_SBayesR)
 PSS012987|
East Asian Ancestry|
17,579 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Menieres disease — AUROC: 0.61747 R²: 0.01243 sex, age, array, PCs 1-10 —
PPM037293 PGS019111
(TPMI_389_Lassosum2)
 PSS013024|
East Asian Ancestry|
19,259 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hearing loss — AUROC: 0.5933 R²: 0.02351 sex, age, array, PCs 1-10 —
PPM037294 PGS019112
(TPMI_389_LDpred2)
 PSS013023|
East Asian Ancestry|
19,259 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hearing loss — AUROC: 0.59236 R²: 0.02335 sex, age, array, PCs 1-10 —
PPM037295 PGS019113
(TPMI_389_MegaPRS)
 PSS013025|
East Asian Ancestry|
19,259 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hearing loss — AUROC: 0.58885 R²: 0.0216 sex, age, array, PCs 1-10 —
PPM037296 PGS019114
(TPMI_389_PRS-CS)
 PSS013026|
East Asian Ancestry|
19,259 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hearing loss — AUROC: 0.59015 R²: 0.02245 sex, age, array, PCs 1-10 —
PPM037297 PGS019115
(TPMI_389_SBayesR)
 PSS013027|
East Asian Ancestry|
19,259 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hearing loss — AUROC: 0.58585 R²: 0.02066 sex, age, array, PCs 1-10 —
PPM037298 PGS019116
(TPMI_389.1_Lassosum2)
 PSS013014|
East Asian Ancestry|
18,218 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sensorineural hearing loss — AUROC: 0.60128 R²: 0.00481 sex, age, array, PCs 1-10 —
PPM037299 PGS019117
(TPMI_389.1_LDpred2)
 PSS013013|
East Asian Ancestry|
18,218 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sensorineural hearing loss — AUROC: 0.60384 R²: 0.00487 sex, age, array, PCs 1-10 —
PPM037300 PGS019118
(TPMI_389.1_MegaPRS)
 PSS013015|
East Asian Ancestry|
18,218 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sensorineural hearing loss — AUROC: 0.60145 R²: 0.00461 sex, age, array, PCs 1-10 —
PPM037301 PGS019119
(TPMI_389.1_PRS-CS)
 PSS013016|
East Asian Ancestry|
18,218 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sensorineural hearing loss — AUROC: 0.59978 R²: 0.0048 sex, age, array, PCs 1-10 —
PPM037302 PGS019120
(TPMI_389.1_SBayesR)
 PSS013017|
East Asian Ancestry|
18,218 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sensorineural hearing loss — AUROC: 0.59804 R²: 0.00448 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
PSS003900 — —
[
  • 214 cases
  • , 1,354 controls
]
 — East Asian — UKB —
PSS003901 — —
[
  • 6,214 cases
  • , 17,483 controls
]
 — European non-white British ancestry UKB —
PSS003902 — —
[
  • 1,425 cases
  • , 5,841 controls
]
 — South Asian — UKB —
PSS003903 — —
[
  • 18,231 cases
  • , 46,834 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007752 — — 2,374 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009161 — — 3,907 individuals — European Poland (NE Europe) UKB —
PSS008267 — — 5,858 individuals — South Asian India (South Asia) UKB —
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 —
PSS008935 — — 3,691 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011783 — —
[
  • 510 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS008045 — — 1,684 individuals — East Asian China (East Asia) UKB —
PSS011784 — —
[
  • 446 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011785 — —
[
  • 167 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011786 — —
[
  • 203 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 —
PSS011787 — —
[
  • 119 cases
  • , 1,577 controls
]
 — European — AugUR —
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 —
PSS012983 386.0,H81.0, H81.31, H81.39 —
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012984 386.0,H81.0, H81.31, H81.39 —
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012985 386.0,H81.0, H81.31, H81.39 —
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012986 386.0,H81.0, H81.31, H81.39 —
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012987 386.0,H81.0, H81.31, H81.39 —
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS000971 Hearing aid use cases responded ‘Yes’ to either ‘Do you wear a hearing aid?’ or ‘Wearing a hearing aid’ while controls responded ‘No’. —
[
  • 216 cases
  • , 2,696 controls
]
,
8.0 % Male samples
 Mean = 59.32 years
Sd = 9.69 years		 European
(British)		 — TwinsUK —
PSS000972 Hearing difficulty cases were defined as responding either ‘Yes, diagnosed by doctor or health professional’ or ‘Yes, not diagnosed by health professional’ to ‘Do you suffer from hearing loss?’ while participants that responded ‘No’ were assigned as controls. —
[
  • 970 cases
  • , 2,666 controls
]
,
8.5 % Male samples
 Mean = 60.34 years
Sd = 10.18 years		 European
(British)		 — TwinsUK —
PSS008715 — — 6,265 individuals — European Italy (South Europe) UKB —
PSS007831 — — 2,325 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008856 — — 3,723 individuals — African unspecified Nigeria (West Africa) UKB —
PSS013009 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42 —
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013008 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42 —
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013010 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42 —
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013011 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42 —
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013012 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42 —
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013014 389.1,H90.3, H90.4, H90.5, H90.A2, H90.A21, H90.A22 —
[
  • 267 cases
  • , 17,951 controls
]
,
46.26 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012317 — —
[
  • 168 cases
  • , 222 controls
]
,
46.0 % Male samples
 — African American or Afro-Caribbean, European, Hispanic or Latin American 92% European and 8% non-European ancestry (African-American/African-Caribbean and Latin American) PCL —
PSS012318 — —
[
  • 93 cases
  • , 145 controls
]
,
62.0 % Male samples
 — Not reported — NR —
PSS013013 389.1,H90.3, H90.4, H90.5, H90.A2, H90.A21, H90.A22 —
[
  • 267 cases
  • , 17,951 controls
]
,
46.26 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007970 — — 1,775 individuals — East Asian China (East Asia) UKB —
PSS013015 389.1,H90.3, H90.4, H90.5, H90.A2, H90.A21, H90.A22 —
[
  • 267 cases
  • , 17,951 controls
]
,
46.26 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013016 389.1,H90.3, H90.4, H90.5, H90.A2, H90.A21, H90.A22 —
[
  • 267 cases
  • , 17,951 controls
]
,
46.26 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013017 389.1,H90.3, H90.4, H90.5, H90.A2, H90.A21, H90.A22 —
[
  • 267 cases
  • , 17,951 controls
]
,
46.26 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013023 388.0, 388.1, 388.2, 388.3, 388.4, 388.5, 389, 794.15, V41.2, V49.85, V53.2,H83.3, H90, H91, H93.0, H93.1, H93.2, H93.3, H93.A, H93.A1, H93.A2, H93.A3, H93.A9, H94.0, R94.120, Z96.2, Z97.4 —
[
  • 1,308 cases
  • , 17,951 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013024 388.0, 388.1, 388.2, 388.3, 388.4, 388.5, 389, 794.15, V41.2, V49.85, V53.2,H83.3, H90, H91, H93.0, H93.1, H93.2, H93.3, H93.A, H93.A1, H93.A2, H93.A3, H93.A9, H94.0, R94.120, Z96.2, Z97.4 —
[
  • 1,308 cases
  • , 17,951 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013025 388.0, 388.1, 388.2, 388.3, 388.4, 388.5, 389, 794.15, V41.2, V49.85, V53.2,H83.3, H90, H91, H93.0, H93.1, H93.2, H93.3, H93.A, H93.A1, H93.A2, H93.A3, H93.A9, H94.0, R94.120, Z96.2, Z97.4 —
[
  • 1,308 cases
  • , 17,951 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008489 — — 1,089 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS013026 388.0, 388.1, 388.2, 388.3, 388.4, 388.5, 389, 794.15, V41.2, V49.85, V53.2,H83.3, H90, H91, H93.0, H93.1, H93.2, H93.3, H93.A, H93.A1, H93.A2, H93.A3, H93.A9, H94.0, R94.120, Z96.2, Z97.4 —
[
  • 1,308 cases
  • , 17,951 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009387 — — 19,161 individuals — European UK (+ Ireland) UKB —
PSS013027 388.0, 388.1, 388.2, 388.3, 388.4, 388.5, 389, 794.15, V41.2, V49.85, V53.2,H83.3, H90, H91, H93.0, H93.1, H93.2, H93.3, H93.A, H93.A1, H93.A2, H93.A3, H93.A9, H94.0, R94.120, Z96.2, Z97.4 —
[
  • 1,308 cases
  • , 17,951 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
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 —
PSS003755 — —
[
  • 697 cases
  • , 5,424 controls
]
 — African unspecified — UKB —
PSS003756 — —
[
  • 214 cases
  • , 1,354 controls
]
 — East Asian — UKB —
PSS003757 — —
[
  • 6,205 cases
  • , 17,484 controls
]
 — European non-white British ancestry UKB —
PSS003758 — —
[
  • 1,416 cases
  • , 5,841 controls
]
 — South Asian — UKB —
PSS003759 — —
[
  • 18,220 cases
  • , 46,834 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008632 — — 6,470 individuals — European Italy (South Europe) UKB —
PSS003899 — —
[
  • 699 cases
  • , 5,424 controls
]
 — African unspecified — UKB —