Trait: abnormal result of function studies

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009628
Description Abnormal result of a test meant to evaluate functionality of an organ or system, such as electroencephalogram, electrocardiogram, glucose tolerance test and others.
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)
PGS019375
(TPMI_573.7_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Abnormal results of function study of liver abnormal result of function studies 27
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019375/ScoringFiles/PGS019375.txt.gz
PGS019376
(TPMI_573.7_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Abnormal results of function study of liver abnormal result of function studies 128,701
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019376/ScoringFiles/PGS019376.txt.gz
PGS019377
(TPMI_573.7_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Abnormal results of function study of liver abnormal result of function studies 31,056
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019377/ScoringFiles/PGS019377.txt.gz
PGS019378
(TPMI_573.7_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Abnormal results of function study of liver abnormal result of function studies 983,814
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019378/ScoringFiles/PGS019378.txt.gz
PGS019379
(TPMI_573.7_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Abnormal results of function study of liver abnormal result of function studies 977,478
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019379/ScoringFiles/PGS019379.txt.gz
PGS019507
(TPMI_598.9_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other nonspecific findings on examination of urine abnormal result of function studies 712,658
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019507/ScoringFiles/PGS019507.txt.gz
PGS019508
(TPMI_598.9_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other nonspecific findings on examination of urine abnormal result of function studies 939,829
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019508/ScoringFiles/PGS019508.txt.gz
PGS019509
(TPMI_598.9_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other nonspecific findings on examination of urine abnormal result of function studies 22,276
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019509/ScoringFiles/PGS019509.txt.gz
PGS019510
(TPMI_598.9_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other nonspecific findings on examination of urine abnormal result of function studies 983,789
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019510/ScoringFiles/PGS019510.txt.gz
PGS019511
(TPMI_598.9_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other nonspecific findings on examination of urine abnormal result of function studies 905,790
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019511/ScoringFiles/PGS019511.txt.gz
PGS019752
(TPMI_790_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nonspecific findings on examination of blood abnormal result of function studies 223,270
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019752/ScoringFiles/PGS019752.txt.gz
PGS019753
(TPMI_790_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nonspecific findings on examination of blood abnormal result of function studies 939,891
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019753/ScoringFiles/PGS019753.txt.gz
PGS019754
(TPMI_790_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nonspecific findings on examination of blood abnormal result of function studies 18,474
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019754/ScoringFiles/PGS019754.txt.gz
PGS019755
(TPMI_790_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nonspecific findings on examination of blood abnormal result of function studies 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019755/ScoringFiles/PGS019755.txt.gz
PGS019756
(TPMI_790_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nonspecific findings on examination of blood abnormal result of function studies 959,344
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019756/ScoringFiles/PGS019756.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
PPM037557 PGS019375
(TPMI_573.7_Lassosum2)
 PSS013273|
East Asian Ancestry|
16,162 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Abnormal results of function study of liver — AUROC: 0.72869 R²: 0.08541 sex, age, array, PCs 1-10 —
PPM037558 PGS019376
(TPMI_573.7_LDpred2)
 PSS013272|
East Asian Ancestry|
16,162 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Abnormal results of function study of liver — AUROC: 0.72885 R²: 0.08572 sex, age, array, PCs 1-10 —
PPM037559 PGS019377
(TPMI_573.7_MegaPRS)
 PSS013274|
East Asian Ancestry|
16,162 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Abnormal results of function study of liver — AUROC: 0.72926 R²: 0.08531 sex, age, array, PCs 1-10 —
PPM037560 PGS019378
(TPMI_573.7_PRS-CS)
 PSS013275|
East Asian Ancestry|
16,162 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Abnormal results of function study of liver — AUROC: 0.72912 R²: 0.08542 sex, age, array, PCs 1-10 —
PPM037561 PGS019379
(TPMI_573.7_SBayesR)
 PSS013276|
East Asian Ancestry|
16,162 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Abnormal results of function study of liver — AUROC: 0.72983 R²: 0.08583 sex, age, array, PCs 1-10 —
PPM037689 PGS019507
(TPMI_598.9_Lassosum2)
 PSS013405|
East Asian Ancestry|
19,062 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other nonspecific findings on examination of urine — AUROC: 0.6334 R²: 0.01753 sex, age, array, PCs 1-10 —
PPM037690 PGS019508
(TPMI_598.9_LDpred2)
 PSS013404|
East Asian Ancestry|
19,062 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other nonspecific findings on examination of urine — AUROC: 0.63528 R²: 0.01794 sex, age, array, PCs 1-10 —
PPM037691 PGS019509
(TPMI_598.9_MegaPRS)
 PSS013406|
East Asian Ancestry|
19,062 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other nonspecific findings on examination of urine — AUROC: 0.63282 R²: 0.01734 sex, age, array, PCs 1-10 —
PPM037692 PGS019510
(TPMI_598.9_PRS-CS)
 PSS013407|
East Asian Ancestry|
19,062 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other nonspecific findings on examination of urine — AUROC: 0.63619 R²: 0.01817 sex, age, array, PCs 1-10 —
PPM037693 PGS019511
(TPMI_598.9_SBayesR)
 PSS013408|
East Asian Ancestry|
19,062 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other nonspecific findings on examination of urine — AUROC: 0.63452 R²: 0.01772 sex, age, array, PCs 1-10 —
PPM037934 PGS019752
(TPMI_790_Lassosum2)
 PSS013661|
East Asian Ancestry|
19,514 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nonspecific findings on examination of blood — AUROC: 0.6212 R²: 0.03541 sex, age, array, PCs 1-10 —
PPM037935 PGS019753
(TPMI_790_LDpred2)
 PSS013660|
East Asian Ancestry|
19,514 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nonspecific findings on examination of blood — AUROC: 0.62341 R²: 0.03677 sex, age, array, PCs 1-10 —
PPM037936 PGS019754
(TPMI_790_MegaPRS)
 PSS013662|
East Asian Ancestry|
19,514 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nonspecific findings on examination of blood — AUROC: 0.6208 R²: 0.03512 sex, age, array, PCs 1-10 —
PPM037937 PGS019755
(TPMI_790_PRS-CS)
 PSS013663|
East Asian Ancestry|
19,514 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nonspecific findings on examination of blood — AUROC: 0.6224 R²: 0.03608 sex, age, array, PCs 1-10 —
PPM037938 PGS019756
(TPMI_790_SBayesR)
 PSS013664|
East Asian Ancestry|
19,514 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nonspecific findings on examination of blood — AUROC: 0.62213 R²: 0.03616 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
PSS013405 791.9,R82.5, R82.6, R82.7, R82.8, R82.9 —
[
  • 1,371 cases
  • , 17,691 controls
]
,
46.32 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013406 791.9,R82.5, R82.6, R82.7, R82.8, R82.9 —
[
  • 1,371 cases
  • , 17,691 controls
]
,
46.32 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013407 791.9,R82.5, R82.6, R82.7, R82.8, R82.9 —
[
  • 1,371 cases
  • , 17,691 controls
]
,
46.32 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013408 791.9,R82.5, R82.6, R82.7, R82.8, R82.9 —
[
  • 1,371 cases
  • , 17,691 controls
]
,
46.32 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013661 790,E79.0, R70.0, R70.1, R77, R78.1, R78.2, R78.3, R78.4, R78.5, R78.6, R78.71, R78.79, R78.89, R78.9, R79.0, R79.81, R79.82, R79.89, R79.9 —
[
  • 1,476 cases
  • , 18,038 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013662 790,E79.0, R70.0, R70.1, R77, R78.1, R78.2, R78.3, R78.4, R78.5, R78.6, R78.71, R78.79, R78.89, R78.9, R79.0, R79.81, R79.82, R79.89, R79.9 —
[
  • 1,476 cases
  • , 18,038 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013663 790,E79.0, R70.0, R70.1, R77, R78.1, R78.2, R78.3, R78.4, R78.5, R78.6, R78.71, R78.79, R78.89, R78.9, R79.0, R79.81, R79.82, R79.89, R79.9 —
[
  • 1,476 cases
  • , 18,038 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013664 790,E79.0, R70.0, R70.1, R77, R78.1, R78.2, R78.3, R78.4, R78.5, R78.6, R78.71, R78.79, R78.89, R78.9, R79.0, R79.81, R79.82, R79.89, R79.9 —
[
  • 1,476 cases
  • , 18,038 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013404 791.9,R82.5, R82.6, R82.7, R82.8, R82.9 —
[
  • 1,371 cases
  • , 17,691 controls
]
,
46.32 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013660 790,E79.0, R70.0, R70.1, R77, R78.1, R78.2, R78.3, R78.4, R78.5, R78.6, R78.71, R78.79, R78.89, R78.9, R79.0, R79.81, R79.82, R79.89, R79.9 —
[
  • 1,476 cases
  • , 18,038 controls
]
,
45.81 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013272 794.8,R94.5 —
[
  • 463 cases
  • , 15,699 controls
]
,
44.61 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013273 794.8,R94.5 —
[
  • 463 cases
  • , 15,699 controls
]
,
44.61 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013274 794.8,R94.5 —
[
  • 463 cases
  • , 15,699 controls
]
,
44.61 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013275 794.8,R94.5 —
[
  • 463 cases
  • , 15,699 controls
]
,
44.61 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013276 794.8,R94.5 —
[
  • 463 cases
  • , 15,699 controls
]
,
44.61 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —