Trait: Abnormality of vision

Trait Information
Identifier HP_0000504
Description Abnormality of eyesight (visual perception).
Trait category
Other trait
Synonyms 3 synonyms
  • Abnormality of sight
  • Abnormality of vision
  • Vision issue

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
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)
PGS019051
(TPMI_368_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Visual disturbances Abnormality of vision 711,283
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019051/ScoringFiles/PGS019051.txt.gz
PGS019052
(TPMI_368_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Visual disturbances Abnormality of vision 939,900
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019052/ScoringFiles/PGS019052.txt.gz
PGS019053
(TPMI_368_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Visual disturbances Abnormality of vision 464,883
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019053/ScoringFiles/PGS019053.txt.gz
PGS019054
(TPMI_368_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Visual disturbances Abnormality of vision 983,831
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019054/ScoringFiles/PGS019054.txt.gz
PGS019055
(TPMI_368_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Visual disturbances Abnormality of vision 983,298
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019055/ScoringFiles/PGS019055.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
PPM037233 PGS019051
(TPMI_368_Lassosum2)
 PSS012954|
East Asian Ancestry|
19,661 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Visual disturbances — AUROC: 0.59182 R²: 0.01485 sex, age, array, PCs 1-10 —
PPM037234 PGS019052
(TPMI_368_LDpred2)
 PSS012953|
East Asian Ancestry|
19,661 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Visual disturbances — AUROC: 0.59372 R²: 0.01537 sex, age, array, PCs 1-10 —
PPM037235 PGS019053
(TPMI_368_MegaPRS)
 PSS012955|
East Asian Ancestry|
19,661 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Visual disturbances — AUROC: 0.59228 R²: 0.01504 sex, age, array, PCs 1-10 —
PPM037236 PGS019054
(TPMI_368_PRS-CS)
 PSS012956|
East Asian Ancestry|
19,661 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Visual disturbances — AUROC: 0.59266 R²: 0.01511 sex, age, array, PCs 1-10 —
PPM037237 PGS019055
(TPMI_368_SBayesR)
 PSS012957|
East Asian Ancestry|
19,661 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Visual disturbances — AUROC: 0.60276 R²: 0.01777 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
PSS012957 367.3, 367.5, 367.81, 368,H52.3, H52.5, H53, R44.1, R48.3 —
[
  • 496 cases
  • , 19,165 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012953 367.3, 367.5, 367.81, 368,H52.3, H52.5, H53, R44.1, R48.3 —
[
  • 496 cases
  • , 19,165 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012954 367.3, 367.5, 367.81, 368,H52.3, H52.5, H53, R44.1, R48.3 —
[
  • 496 cases
  • , 19,165 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012955 367.3, 367.5, 367.81, 368,H52.3, H52.5, H53, R44.1, R48.3 —
[
  • 496 cases
  • , 19,165 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012956 367.3, 367.5, 367.81, 368,H52.3, H52.5, H53, R44.1, R48.3 —
[
  • 496 cases
  • , 19,165 controls
]
,
46.08 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —