Trait: sign or symptom

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003765
Description
  • Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient.
  • Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom).
Trait category
Other trait
Synonyms 7 synonyms
  • Clinical Finding
  • DESC
  • Diagnostic Findings
  • Finding
  • SIGNS SYMPTOMS
  • Signs and Symptoms
  • Symptoms and Signs
Child trait(s) 3 child traits

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 "sign or symptom" 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)
PGS019101
(TPMI_386.9_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Dizziness and giddiness Light headedness and vertigo dizziness,
Vertigo		 151,833
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019101/ScoringFiles/PGS019101.txt.gz
PGS019102
(TPMI_386.9_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Dizziness and giddiness Light headedness and vertigo dizziness,
Vertigo		 364,424
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019102/ScoringFiles/PGS019102.txt.gz
PGS019103
(TPMI_386.9_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Dizziness and giddiness Light headedness and vertigo dizziness,
Vertigo		 19,338
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019103/ScoringFiles/PGS019103.txt.gz
PGS019104
(TPMI_386.9_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Dizziness and giddiness Light headedness and vertigo dizziness,
Vertigo		 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019104/ScoringFiles/PGS019104.txt.gz
PGS019105
(TPMI_386.9_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Dizziness and giddiness Light headedness and vertigo dizziness,
Vertigo		 931,755
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019105/ScoringFiles/PGS019105.txt.gz
PGS019547
(TPMI_613.7_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other signs and symptoms in breast sign or symptom 2
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019547/ScoringFiles/PGS019547.txt.gz
PGS019548
(TPMI_613.7_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other signs and symptoms in breast sign or symptom 939,891
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019548/ScoringFiles/PGS019548.txt.gz
PGS019549
(TPMI_613.7_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other signs and symptoms in breast sign or symptom 21,120
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019549/ScoringFiles/PGS019549.txt.gz
PGS019550
(TPMI_613.7_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other signs and symptoms in breast sign or symptom 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019550/ScoringFiles/PGS019550.txt.gz
PGS019551
(TPMI_613.7_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other signs and symptoms in breast sign or symptom 976,239
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019551/ScoringFiles/PGS019551.txt.gz
PGS019747
(TPMI_783_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Fever of unknown origin fever of unknown origin 44
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019747/ScoringFiles/PGS019747.txt.gz
PGS019748
(TPMI_783_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Fever of unknown origin fever of unknown origin 151,556
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019748/ScoringFiles/PGS019748.txt.gz
PGS019749
(TPMI_783_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Fever of unknown origin fever of unknown origin 556,003
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019749/ScoringFiles/PGS019749.txt.gz
PGS019750
(TPMI_783_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Fever of unknown origin fever of unknown origin 983,825
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019750/ScoringFiles/PGS019750.txt.gz
PGS019751
(TPMI_783_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Fever of unknown origin fever of unknown origin 986,365
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019751/ScoringFiles/PGS019751.txt.gz
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
PPM037283 PGS019101
(TPMI_386.9_Lassosum2)
 PSS013004|
East Asian Ancestry|
18,550 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Dizziness and giddiness Light headedness and vertigo — AUROC: 0.59487 R²: 0.0355 sex, age, array, PCs 1-10 —
PPM037284 PGS019102
(TPMI_386.9_LDpred2)
 PSS013003|
East Asian Ancestry|
18,550 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Dizziness and giddiness Light headedness and vertigo — AUROC: 0.59652 R²: 0.03685 sex, age, array, PCs 1-10 —
PPM037285 PGS019103
(TPMI_386.9_MegaPRS)
 PSS013005|
East Asian Ancestry|
18,550 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Dizziness and giddiness Light headedness and vertigo — AUROC: 0.59305 R²: 0.03412 sex, age, array, PCs 1-10 —
PPM037286 PGS019104
(TPMI_386.9_PRS-CS)
 PSS013006|
East Asian Ancestry|
18,550 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Dizziness and giddiness Light headedness and vertigo — AUROC: 0.59608 R²: 0.0364 sex, age, array, PCs 1-10 —
PPM037287 PGS019105
(TPMI_386.9_SBayesR)
 PSS013007|
East Asian Ancestry|
18,550 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Dizziness and giddiness Light headedness and vertigo — AUROC: 0.5932 R²: 0.03466 sex, age, array, PCs 1-10 —
PPM037729 PGS019547
(TPMI_613.7_Lassosum2)
 PSS013445|
East Asian Ancestry|
19,065 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other signs and symptoms in breast — AUROC: 0.84295 R²: 0.28179 sex, age, array, PCs 1-10 —
PPM037730 PGS019548
(TPMI_613.7_LDpred2)
 PSS013444|
East Asian Ancestry|
19,065 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other signs and symptoms in breast — AUROC: 0.84355 R²: 0.28275 sex, age, array, PCs 1-10 —
PPM037731 PGS019549
(TPMI_613.7_MegaPRS)
 PSS013446|
East Asian Ancestry|
19,065 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other signs and symptoms in breast — AUROC: 0.84302 R²: 0.28184 sex, age, array, PCs 1-10 —
PPM037732 PGS019550
(TPMI_613.7_PRS-CS)
 PSS013447|
East Asian Ancestry|
19,065 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other signs and symptoms in breast — AUROC: 0.84354 R²: 0.28269 sex, age, array, PCs 1-10 —
PPM037733 PGS019551
(TPMI_613.7_SBayesR)
 PSS013448|
East Asian Ancestry|
19,065 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other signs and symptoms in breast — AUROC: 0.84364 R²: 0.28258 sex, age, array, PCs 1-10 —
PPM037929 PGS019747
(TPMI_783_Lassosum2)
 PSS013650|
East Asian Ancestry|
19,417 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Fever of unknown origin — AUROC: 0.65195 R²: 0.05103 sex, age, array, PCs 1-10 —
PPM037930 PGS019748
(TPMI_783_LDpred2)
 PSS013649|
East Asian Ancestry|
19,417 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Fever of unknown origin — AUROC: 0.65198 R²: 0.05105 sex, age, array, PCs 1-10 —
PPM037931 PGS019749
(TPMI_783_MegaPRS)
 PSS013651|
East Asian Ancestry|
19,417 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Fever of unknown origin — AUROC: 0.65128 R²: 0.05068 sex, age, array, PCs 1-10 —
PPM037932 PGS019750
(TPMI_783_PRS-CS)
 PSS013652|
East Asian Ancestry|
19,417 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Fever of unknown origin — AUROC: 0.65131 R²: 0.05066 sex, age, array, PCs 1-10 —
PPM037933 PGS019751
(TPMI_783_SBayesR)
 PSS013653|
East Asian Ancestry|
19,417 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Fever of unknown origin — AUROC: 0.65134 R²: 0.05063 sex, age, array, PCs 1-10 —
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
PSS013444 611.7,N64.5 —
[
  • 1,046 cases
  • , 18,019 controls
]
,
48.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013445 611.7,N64.5 —
[
  • 1,046 cases
  • , 18,019 controls
]
,
48.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013446 611.7,N64.5 —
[
  • 1,046 cases
  • , 18,019 controls
]
,
48.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013447 611.7,N64.5 —
[
  • 1,046 cases
  • , 18,019 controls
]
,
48.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013448 611.7,N64.5 —
[
  • 1,046 cases
  • , 18,019 controls
]
,
48.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013003 780.4,R42 —
[
  • 1,369 cases
  • , 17,181 controls
]
,
46.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013004 780.4,R42 —
[
  • 1,369 cases
  • , 17,181 controls
]
,
46.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013005 780.4,R42 —
[
  • 1,369 cases
  • , 17,181 controls
]
,
46.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013006 780.4,R42 —
[
  • 1,369 cases
  • , 17,181 controls
]
,
46.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013007 780.4,R42 —
[
  • 1,369 cases
  • , 17,181 controls
]
,
46.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013649 780.6, 995.86,R50.2, R50.81, R50.82, R50.9 —
[
  • 458 cases
  • , 18,959 controls
]
,
46.04 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013650 780.6, 995.86,R50.2, R50.81, R50.82, R50.9 —
[
  • 458 cases
  • , 18,959 controls
]
,
46.04 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013651 780.6, 995.86,R50.2, R50.81, R50.82, R50.9 —
[
  • 458 cases
  • , 18,959 controls
]
,
46.04 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013652 780.6, 995.86,R50.2, R50.81, R50.82, R50.9 —
[
  • 458 cases
  • , 18,959 controls
]
,
46.04 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013653 780.6, 995.86,R50.2, R50.81, R50.82, R50.9 —
[
  • 458 cases
  • , 18,959 controls
]
,
46.04 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
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 —