Trait: isolated agenesis of gallbladder

Trait Information
Identifier MONDO_0007642
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)
PGS019395
(TPMI_575.6_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholesterolosis of gallbladder isolated agenesis of gallbladder 94
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019395/ScoringFiles/PGS019395.txt.gz
PGS019396
(TPMI_575.6_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholesterolosis of gallbladder isolated agenesis of gallbladder 317,692
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019396/ScoringFiles/PGS019396.txt.gz
PGS019397
(TPMI_575.6_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholesterolosis of gallbladder isolated agenesis of gallbladder 22,140
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019397/ScoringFiles/PGS019397.txt.gz
PGS019398
(TPMI_575.6_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholesterolosis of gallbladder isolated agenesis of gallbladder 983,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019398/ScoringFiles/PGS019398.txt.gz
PGS019399
(TPMI_575.6_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholesterolosis of gallbladder isolated agenesis of gallbladder 1,012,242
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019399/ScoringFiles/PGS019399.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
PPM037577 PGS019395
(TPMI_575.6_Lassosum2)
 PSS013293|
East Asian Ancestry|
18,765 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholesterolosis of gallbladder — AUROC: 0.7218 R²: 0.01449 sex, age, array, PCs 1-10 —
PPM037578 PGS019396
(TPMI_575.6_LDpred2)
 PSS013292|
East Asian Ancestry|
18,765 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholesterolosis of gallbladder — AUROC: 0.71101 R²: 0.01282 sex, age, array, PCs 1-10 —
PPM037579 PGS019397
(TPMI_575.6_MegaPRS)
 PSS013294|
East Asian Ancestry|
18,765 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholesterolosis of gallbladder — AUROC: 0.71115 R²: 0.01278 sex, age, array, PCs 1-10 —
PPM037580 PGS019398
(TPMI_575.6_PRS-CS)
 PSS013295|
East Asian Ancestry|
18,765 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholesterolosis of gallbladder — AUROC: 0.71248 R²: 0.01294 sex, age, array, PCs 1-10 —
PPM037581 PGS019399
(TPMI_575.6_SBayesR)
 PSS013296|
East Asian Ancestry|
18,765 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholesterolosis of gallbladder — AUROC: 0.71278 R²: 0.01299 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
PSS013292 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013293 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013294 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013295 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013296 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —