Trait: cytological, histological or immunological finding

Experimental Factor Ontology (EFO) Information
Identifier EFO_0010677
Description Any cytological, histological or immunological finding(s).
Trait category
Other trait

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)
PGS019763
(TPMI_795_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and nonspecific abnormal cytological histological and immunological findings cytological, histological or immunological finding 78
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019763/ScoringFiles/PGS019763.txt.gz
PGS019764
(TPMI_795_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and nonspecific abnormal cytological histological and immunological findings cytological, histological or immunological finding 176,416
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019764/ScoringFiles/PGS019764.txt.gz
PGS019765
(TPMI_795_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and nonspecific abnormal cytological histological and immunological findings cytological, histological or immunological finding 22,807
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019765/ScoringFiles/PGS019765.txt.gz
PGS019766
(TPMI_795_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and nonspecific abnormal cytological histological and immunological findings cytological, histological or immunological finding 983,791
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019766/ScoringFiles/PGS019766.txt.gz
PGS019767
(TPMI_795_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and nonspecific abnormal cytological histological and immunological findings cytological, histological or immunological finding 972,527
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019767/ScoringFiles/PGS019767.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
PPM037945 PGS019763
(TPMI_795_Lassosum2)
 PSS013671|
East Asian Ancestry|
19,871 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and nonspecific abnormal cytological histological and immunological findings — AUROC: 0.61421 R²: 0.00682 sex, age, array, PCs 1-10 —
PPM037946 PGS019764
(TPMI_795_LDpred2)
 PSS013670|
East Asian Ancestry|
19,871 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and nonspecific abnormal cytological histological and immunological findings — AUROC: 0.61483 R²: 0.00686 sex, age, array, PCs 1-10 —
PPM037947 PGS019765
(TPMI_795_MegaPRS)
 PSS013672|
East Asian Ancestry|
19,871 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and nonspecific abnormal cytological histological and immunological findings — AUROC: 0.61341 R²: 0.0067 sex, age, array, PCs 1-10 —
PPM037948 PGS019766
(TPMI_795_PRS-CS)
 PSS013673|
East Asian Ancestry|
19,871 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and nonspecific abnormal cytological histological and immunological findings — AUROC: 0.61601 R²: 0.00691 sex, age, array, PCs 1-10 —
PPM037949 PGS019767
(TPMI_795_SBayesR)
 PSS013674|
East Asian Ancestry|
19,871 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and nonspecific abnormal cytological histological and immunological findings — AUROC: 0.6138 R²: 0.00672 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
PSS013670 795,R87.618, R87.619, R87.629, R97 —
[
  • 405 cases
  • , 19,466 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013671 795,R87.618, R87.619, R87.629, R97 —
[
  • 405 cases
  • , 19,466 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013672 795,R87.618, R87.619, R87.629, R97 —
[
  • 405 cases
  • , 19,466 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013673 795,R87.618, R87.619, R87.629, R97 —
[
  • 405 cases
  • , 19,466 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013674 795,R87.618, R87.619, R87.629, R97 —
[
  • 405 cases
  • , 19,466 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —