Trait: dysplasia of cervix

Trait Information
Identifier MONDO_0006736
Description Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane. [MESH: D002578]
Trait category
Other trait
Child trait(s) cervical intraepithelial neoplasia

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 "dysplasia of cervix" 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)
PGS018550
(TPMI_180.3_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical intraepithelial neoplasia CIN Cervical dysplasia cervical intraepithelial neoplasia 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018550/ScoringFiles/PGS018550.txt.gz
PGS018551
(TPMI_180.3_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical intraepithelial neoplasia CIN Cervical dysplasia cervical intraepithelial neoplasia 939,793
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018551/ScoringFiles/PGS018551.txt.gz
PGS018552
(TPMI_180.3_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical intraepithelial neoplasia CIN Cervical dysplasia cervical intraepithelial neoplasia 510,181
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018552/ScoringFiles/PGS018552.txt.gz
PGS018553
(TPMI_180.3_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical intraepithelial neoplasia CIN Cervical dysplasia cervical intraepithelial neoplasia 983,760
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018553/ScoringFiles/PGS018553.txt.gz
PGS018554
(TPMI_180.3_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical intraepithelial neoplasia CIN Cervical dysplasia cervical intraepithelial neoplasia 1,000,057
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018554/ScoringFiles/PGS018554.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
PPM036732 PGS018550
(TPMI_180.3_Lassosum2)
 PSS012448|
East Asian Ancestry|
8,156 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical intraepithelial neoplasia CIN Cervical dysplasia — AUROC: 0.74731 R²: 0.09339 sex, age, array, PCs 1-10 —
PPM036733 PGS018551
(TPMI_180.3_LDpred2)
 PSS012447|
East Asian Ancestry|
8,156 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical intraepithelial neoplasia CIN Cervical dysplasia — AUROC: 0.74704 R²: 0.09324 sex, age, array, PCs 1-10 —
PPM036734 PGS018552
(TPMI_180.3_MegaPRS)
 PSS012449|
East Asian Ancestry|
8,156 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical intraepithelial neoplasia CIN Cervical dysplasia — AUROC: 0.74698 R²: 0.09322 sex, age, array, PCs 1-10 —
PPM036735 PGS018553
(TPMI_180.3_PRS-CS)
 PSS012450|
East Asian Ancestry|
8,156 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical intraepithelial neoplasia CIN Cervical dysplasia — AUROC: 0.747 R²: 0.09322 sex, age, array, PCs 1-10 —
PPM036736 PGS018554
(TPMI_180.3_SBayesR)
 PSS012451|
East Asian Ancestry|
8,156 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical intraepithelial neoplasia CIN Cervical dysplasia — AUROC: 0.74714 R²: 0.0933 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
PSS012447 233.1, 622.1,D06, N87 —
[
  • 270 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012448 233.1, 622.1,D06, N87 —
[
  • 270 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012449 233.1, 622.1,D06, N87 —
[
  • 270 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012450 233.1, 622.1,D06, N87 —
[
  • 270 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012451 233.1, 622.1,D06, N87 —
[
  • 270 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —