Trait: sensorineural hearing loss disorder

Trait Information
Identifier MONDO_0020678
Description Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). [Wikipedia: Sensorineural_hearing_loss]
Trait category
Other trait
Synonyms 4 synonyms
  • SNHL
  • sensorineural deafness
  • sensorineural hearing loss
  • sensorineural hearing loss disorder
Child trait(s) presbycusis

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 "sensorineural hearing loss disorder" 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)
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
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 —
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
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 —
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 —
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 —
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 —