Trait: biliary tract disorder

Trait Information
Identifier MONDO_0004868
Description A disease involving the biliary tree.
Trait categories
Digestive system disorder
Other disease
Synonyms 5 synonyms
  • biliary tree disease
  • biliary tree disease or disorder
  • disease of biliary tree
  • disease or disorder of biliary tree
  • disorder of biliary tree
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 "biliary tract disorder" 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)
PGS000705
(HC188)
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Gallstones gallstones 183,458
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000705/ScoringFiles/PGS000705.txt.gz - Check Terms/Licenses
PGS001174
(GBE_HC1125)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Cholelithiasis (time-to-event) cholelithiasis 970
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001174/ScoringFiles/PGS001174.txt.gz
PGS001256
(GBE_HC188)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Gallstones gallstones 876
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001256/ScoringFiles/PGS001256.txt.gz
PGS001861
(portability-PLR_574)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Cholelithiasis and cholecystitis Cholecystitis,
cholelithiasis		 2,059
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001861/ScoringFiles/PGS001861.txt.gz
PGS001862
(portability-PLR_575)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Other biliary tract disease biliary tract disorder 151
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001862/ScoringFiles/PGS001862.txt.gz
PGS002072
(portability-ldpred2_574)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Cholelithiasis and cholecystitis Cholecystitis,
cholelithiasis		 428,587
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002072/ScoringFiles/PGS002072.txt.gz
PGS002073
(portability-ldpred2_575)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Other biliary tract disease biliary tract disorder 363,801
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002073/ScoringFiles/PGS002073.txt.gz
PGS004476
(disease.K80.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K80 (Cholelithiasis) cholelithiasis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004476/ScoringFiles/PGS004476.txt.gz
PGS004546
(meta.K80.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K80 (Cholelithiasis) cholelithiasis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004546/ScoringFiles/PGS004546.txt.gz
PGS005150
(Cholelithiasis (PRS-CSx; EAS+EUR))
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Cholelithiasis cholelithiasis 908,465
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005150/ScoringFiles/PGS005150.txt.gz
PGS012582
(PRS13_cholelithiasis)
 PGP000816 |
Mi N et al. Prev Med (2024)
 Cholelithiasis cholelithiasis 13
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012582/ScoringFiles/PGS012582.txt.gz
PGS019380
(TPMI_574_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis and cholecystitis cholelithiasis 828
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019380/ScoringFiles/PGS019380.txt.gz
PGS019381
(TPMI_574_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis and cholecystitis cholelithiasis 301,092
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019381/ScoringFiles/PGS019381.txt.gz
PGS019382
(TPMI_574_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis and cholecystitis cholelithiasis 504,100
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019382/ScoringFiles/PGS019382.txt.gz
PGS019383
(TPMI_574_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis and cholecystitis cholelithiasis 983,827
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019383/ScoringFiles/PGS019383.txt.gz
PGS019384
(TPMI_574_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis and cholecystitis cholelithiasis 961,215
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019384/ScoringFiles/PGS019384.txt.gz
PGS019385
(TPMI_574.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis cholelithiasis 822
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019385/ScoringFiles/PGS019385.txt.gz
PGS019386
(TPMI_574.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis cholelithiasis 299,623
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019386/ScoringFiles/PGS019386.txt.gz
PGS019387
(TPMI_574.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis cholelithiasis 14,247
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019387/ScoringFiles/PGS019387.txt.gz
PGS019388
(TPMI_574.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis cholelithiasis 983,827
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019388/ScoringFiles/PGS019388.txt.gz
PGS019389
(TPMI_574.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cholelithiasis cholelithiasis 950,200
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019389/ScoringFiles/PGS019389.txt.gz
PGS019390
(TPMI_575_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other biliary tract disease biliary tract disorder 114
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019390/ScoringFiles/PGS019390.txt.gz
PGS019391
(TPMI_575_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other biliary tract disease biliary tract disorder 939,893
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019391/ScoringFiles/PGS019391.txt.gz
PGS019392
(TPMI_575_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other biliary tract disease biliary tract disorder 521,023
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019392/ScoringFiles/PGS019392.txt.gz
PGS019393
(TPMI_575_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other biliary tract disease biliary tract disorder 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019393/ScoringFiles/PGS019393.txt.gz
PGS019394
(TPMI_575_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other biliary tract disease biliary tract disorder 964,528
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019394/ScoringFiles/PGS019394.txt.gz
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
PPM001597 PGS000705
(HC188)
 PSS000811|
European Ancestry|
87,413 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Gallstones — AUROC: 0.62164 — Age, sex, PCs(1-10) —
PPM001613 PGS000705
(HC188)
 PSS000812|
European Ancestry|
135,300 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Gallstones HR: 1.34 [1.32, 1.37] C-index: 0.605 — Age as time scale, sex, batch, PCs(1-10) —
PPM008580 PGS001174
(GBE_HC1125)
 PSS004139|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE cholelithiasis — AUROC: 0.69202 [0.6517, 0.73234] R²: 0.05473
Incremental AUROC (full-covars): 0.01651
PGS R2 (no covariates): 0.00765
PGS AUROC (no covariates): 0.56963 [0.52438, 0.61487]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008581 PGS001174
(GBE_HC1125)
 PSS004140|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE cholelithiasis — AUROC: 0.69749 [0.6348, 0.76018] R²: 0.06838
Incremental AUROC (full-covars): 0.01442
PGS R2 (no covariates): 0.00347
PGS AUROC (no covariates): 0.557 [0.48585, 0.62815]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008582 PGS001174
(GBE_HC1125)
 PSS004141|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE cholelithiasis — AUROC: 0.66706 [0.6514, 0.68272] R²: 0.05295
Incremental AUROC (full-covars): 0.04311
PGS R2 (no covariates): 0.02808
PGS AUROC (no covariates): 0.62342 [0.60688, 0.63996]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008583 PGS001174
(GBE_HC1125)
 PSS004142|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE cholelithiasis — AUROC: 0.68516 [0.65563, 0.7147] R²: 0.05864
Incremental AUROC (full-covars): 0.01084
PGS R2 (no covariates): 0.00661
PGS AUROC (no covariates): 0.55746 [0.52498, 0.58993]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008584 PGS001174
(GBE_HC1125)
 PSS004143|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE cholelithiasis — AUROC: 0.67421 [0.66558, 0.68284] R²: 0.05848
Incremental AUROC (full-covars): 0.04052
PGS R2 (no covariates): 0.02571
PGS AUROC (no covariates): 0.61632 [0.60704, 0.62561]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008785 PGS001256
(GBE_HC188)
 PSS004334|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Gallstones — AUROC: 0.68692 [0.64329, 0.73056] R²: 0.04974
Incremental AUROC (full-covars): 0.02029
PGS R2 (no covariates): 0.00785
PGS AUROC (no covariates): 0.56814 [0.51821, 0.61807]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008786 PGS001256
(GBE_HC188)
 PSS004335|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Gallstones — AUROC: 0.67793 [0.60585, 0.75001] R²: 0.06195
Incremental AUROC (full-covars): 0.00834
PGS R2 (no covariates): 0.00064
PGS AUROC (no covariates): 0.52583 [0.44852, 0.60314]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008787 PGS001256
(GBE_HC188)
 PSS004336|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Gallstones — AUROC: 0.66809 [0.65163, 0.68454] R²: 0.05165
Incremental AUROC (full-covars): 0.04397
PGS R2 (no covariates): 0.0275
PGS AUROC (no covariates): 0.62496 [0.60759, 0.64234]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008788 PGS001256
(GBE_HC188)
 PSS004337|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Gallstones — AUROC: 0.68743 [0.65645, 0.71841] R²: 0.0581
Incremental AUROC (full-covars): 0.01295
PGS R2 (no covariates): 0.00775
PGS AUROC (no covariates): 0.56733 [0.53369, 0.60096]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008789 PGS001256
(GBE_HC188)
 PSS004338|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Gallstones — AUROC: 0.67227 [0.66315, 0.68138] R²: 0.05484
Incremental AUROC (full-covars): 0.04156
PGS R2 (no covariates): 0.02494
PGS AUROC (no covariates): 0.6171 [0.6073, 0.6269]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009777 PGS001861
(portability-PLR_574)
 PSS009336|
European Ancestry|
19,908 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0948 [0.081, 0.1085] sex, age, birth date, deprivation index, 16 PCs —
PPM009778 PGS001861
(portability-PLR_574)
 PSS009110|
European Ancestry|
4,121 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0809 [0.0504, 0.1112] sex, age, birth date, deprivation index, 16 PCs —
PPM009779 PGS001861
(portability-PLR_574)
 PSS008664|
European Ancestry|
6,631 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0769 [0.0529, 0.1008] sex, age, birth date, deprivation index, 16 PCs —
PPM009780 PGS001861
(portability-PLR_574)
 PSS008438|
Greater Middle Eastern Ancestry|
1,197 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0684 [0.0113, 0.1251] sex, age, birth date, deprivation index, 16 PCs —
PPM009781 PGS001861
(portability-PLR_574)
 PSS008218|
South Asian Ancestry|
6,310 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0422 [0.0175, 0.0668] sex, age, birth date, deprivation index, 16 PCs —
PPM009782 PGS001861
(portability-PLR_574)
 PSS007999|
East Asian Ancestry|
1,806 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.041 [-0.0054, 0.0872] sex, age, birth date, deprivation index, 16 PCs —
PPM009783 PGS001861
(portability-PLR_574)
 PSS007783|
African Ancestry|
2,477 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0362 [-0.0033, 0.0757] sex, age, birth date, deprivation index, 16 PCs —
PPM009784 PGS001861
(portability-PLR_574)
 PSS008887|
African Ancestry|
3,912 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0251 [-0.0063, 0.0565] sex, age, birth date, deprivation index, 16 PCs —
PPM009785 PGS001862
(portability-PLR_575)
 PSS009337|
European Ancestry|
19,288 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0221 [0.008, 0.0362] sex, age, birth date, deprivation index, 16 PCs —
PPM009786 PGS001862
(portability-PLR_575)
 PSS009111|
European Ancestry|
3,998 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0485 [0.0174, 0.0795] sex, age, birth date, deprivation index, 16 PCs —
PPM009787 PGS001862
(portability-PLR_575)
 PSS008665|
European Ancestry|
6,436 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): -0.0029 [-0.0274, 0.0215] sex, age, birth date, deprivation index, 16 PCs —
PPM009788 PGS001862
(portability-PLR_575)
 PSS008439|
Greater Middle Eastern Ancestry|
1,170 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0133 [-0.0445, 0.0711] sex, age, birth date, deprivation index, 16 PCs —
PPM009789 PGS001862
(portability-PLR_575)
 PSS008219|
South Asian Ancestry|
6,142 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0217 [-0.0033, 0.0468] sex, age, birth date, deprivation index, 16 PCs —
PPM009790 PGS001862
(portability-PLR_575)
 PSS008000|
East Asian Ancestry|
1,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.03 [-0.0168, 0.0767] sex, age, birth date, deprivation index, 16 PCs —
PPM009792 PGS001862
(portability-PLR_575)
 PSS008888|
African Ancestry|
3,852 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): -0.0004 [-0.0321, 0.0312] sex, age, birth date, deprivation index, 16 PCs —
PPM009791 PGS001862
(portability-PLR_575)
 PSS007784|
African Ancestry|
2,432 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0111 [-0.0288, 0.051] sex, age, birth date, deprivation index, 16 PCs —
PPM011437 PGS002072
(portability-ldpred2_574)
 PSS009336|
European Ancestry|
19,908 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.098 [0.0842, 0.1117] sex, age, birth date, deprivation index, 16 PCs —
PPM011439 PGS002072
(portability-ldpred2_574)
 PSS008664|
European Ancestry|
6,631 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0805 [0.0565, 0.1044] sex, age, birth date, deprivation index, 16 PCs —
PPM011440 PGS002072
(portability-ldpred2_574)
 PSS008438|
Greater Middle Eastern Ancestry|
1,197 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0663 [0.0092, 0.123] sex, age, birth date, deprivation index, 16 PCs —
PPM011441 PGS002072
(portability-ldpred2_574)
 PSS008218|
South Asian Ancestry|
6,310 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0503 [0.0256, 0.0749] sex, age, birth date, deprivation index, 16 PCs —
PPM011442 PGS002072
(portability-ldpred2_574)
 PSS007999|
East Asian Ancestry|
1,806 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0441 [-0.0023, 0.0903] sex, age, birth date, deprivation index, 16 PCs —
PPM011443 PGS002072
(portability-ldpred2_574)
 PSS007783|
African Ancestry|
2,477 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0336 [-0.0059, 0.0731] sex, age, birth date, deprivation index, 16 PCs —
PPM011444 PGS002072
(portability-ldpred2_574)
 PSS008887|
African Ancestry|
3,912 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.033 [0.0016, 0.0643] sex, age, birth date, deprivation index, 16 PCs —
PPM011438 PGS002072
(portability-ldpred2_574)
 PSS009110|
European Ancestry|
4,121 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cholelithiasis and cholecystitis — — Partial Correlation (partial-r): 0.0792 [0.0487, 0.1096] sex, age, birth date, deprivation index, 16 PCs —
PPM011445 PGS002073
(portability-ldpred2_575)
 PSS009337|
European Ancestry|
19,288 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0215 [0.0074, 0.0356] sex, age, birth date, deprivation index, 16 PCs —
PPM011446 PGS002073
(portability-ldpred2_575)
 PSS009111|
European Ancestry|
3,998 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0453 [0.0142, 0.0762] sex, age, birth date, deprivation index, 16 PCs —
PPM011447 PGS002073
(portability-ldpred2_575)
 PSS008665|
European Ancestry|
6,436 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): -0.0067 [-0.0311, 0.0178] sex, age, birth date, deprivation index, 16 PCs —
PPM011448 PGS002073
(portability-ldpred2_575)
 PSS008439|
Greater Middle Eastern Ancestry|
1,170 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): -0.0075 [-0.0653, 0.0503] sex, age, birth date, deprivation index, 16 PCs —
PPM011449 PGS002073
(portability-ldpred2_575)
 PSS008219|
South Asian Ancestry|
6,142 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.029 [0.004, 0.054] sex, age, birth date, deprivation index, 16 PCs —
PPM011450 PGS002073
(portability-ldpred2_575)
 PSS008000|
East Asian Ancestry|
1,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.053 [0.0062, 0.0995] sex, age, birth date, deprivation index, 16 PCs —
PPM011452 PGS002073
(portability-ldpred2_575)
 PSS008888|
African Ancestry|
3,852 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0035 [-0.0281, 0.0352] sex, age, birth date, deprivation index, 16 PCs —
PPM011451 PGS002073
(portability-ldpred2_575)
 PSS007784|
African Ancestry|
2,432 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other biliary tract disease — — Partial Correlation (partial-r): 0.0039 [-0.036, 0.0438] sex, age, birth date, deprivation index, 16 PCs —
PPM020591 PGS004476
(disease.K80.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K80 (Cholelithiasis) OR: 1.21943 — — — —
PPM020661 PGS004546
(meta.K80.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K80 (Cholelithiasis) OR: 1.29862 — — — —
PPM022370 PGS005150
(Cholelithiasis (PRS-CSx; EAS+EUR))
 PSS011920|
East Asian Ancestry|
58,628 individuals
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Reported Trait: Cholelithiasis β: 1.19056 — — age, sex —
PPM030739 PGS012582
(PRS13_cholelithiasis)
 PSS012273|
European Ancestry|
317,640 individuals
 PGP000816 |
Mi N et al. Prev Med (2024)
 Reported Trait: cholelithiasis — — Hazard ratio (HR, high vs low tertile): 1.24 [1.16, 1.32] age, sex, UK Biobank assessment centers, and additionally adjusted for index of multiple deprivation, overall health rating, long-standing illness, obesity, dyslipidemia for triglycerides, dyslipidemia for high-density lipoprotein cholesterol, hypertension, hyperglycemia, multivitamin use, mineral use, aspirin use, non-steroidal anti-inflammatory drugs use, statin use, proton pump inhibitors use, lifestyle factors (diet, smoking, alcohol consumption, coffee consumption, physical activity and body weight) —
PPM030740 PGS012582
(PRS13_cholelithiasis)
 PSS012273|
European Ancestry|
317,640 individuals
 PGP000816 |
Mi N et al. Prev Med (2024)
 Reported Trait: cholelithiasis x lifestyle interaction — — Hazard ratio (HR, unfavorable lifestyle and high PRS vs. favorable lifestyle and low PRS): 1.98 [1.67, 2.35] cerides, dyslipidemia for high-density lipoprotein cholesterol, hypertension, hyperglycemia, multivitamin use, mineral use, aspirin use, non-steroidal anti-inflammatory drugs use, statin use and proton pump inhibitors use —
PPM037562 PGS019380
(TPMI_574_Lassosum2)
 PSS013288|
East Asian Ancestry|
19,486 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis and cholecystitis — AUROC: 0.59197 R²: 0.02302 sex, age, array, PCs 1-10 —
PPM037563 PGS019381
(TPMI_574_LDpred2)
 PSS013287|
East Asian Ancestry|
19,486 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis and cholecystitis — AUROC: 0.59372 R²: 0.02396 sex, age, array, PCs 1-10 —
PPM037564 PGS019382
(TPMI_574_MegaPRS)
 PSS013289|
East Asian Ancestry|
19,486 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis and cholecystitis — AUROC: 0.58961 R²: 0.02289 sex, age, array, PCs 1-10 —
PPM037565 PGS019383
(TPMI_574_PRS-CS)
 PSS013290|
East Asian Ancestry|
19,486 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis and cholecystitis — AUROC: 0.59024 R²: 0.02264 sex, age, array, PCs 1-10 —
PPM037566 PGS019384
(TPMI_574_SBayesR)
 PSS013291|
East Asian Ancestry|
19,486 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis and cholecystitis — AUROC: 0.58855 R²: 0.02182 sex, age, array, PCs 1-10 —
PPM037567 PGS019385
(TPMI_574.1_Lassosum2)
 PSS013283|
East Asian Ancestry|
19,438 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis — AUROC: 0.58757 R²: 0.01886 sex, age, array, PCs 1-10 —
PPM037568 PGS019386
(TPMI_574.1_LDpred2)
 PSS013282|
East Asian Ancestry|
19,438 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis — AUROC: 0.59115 R²: 0.02041 sex, age, array, PCs 1-10 —
PPM037569 PGS019387
(TPMI_574.1_MegaPRS)
 PSS013284|
East Asian Ancestry|
19,438 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis — AUROC: 0.58583 R²: 0.01848 sex, age, array, PCs 1-10 —
PPM037570 PGS019388
(TPMI_574.1_PRS-CS)
 PSS013285|
East Asian Ancestry|
19,438 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis — AUROC: 0.59133 R²: 0.02096 sex, age, array, PCs 1-10 —
PPM037571 PGS019389
(TPMI_574.1_SBayesR)
 PSS013286|
East Asian Ancestry|
19,438 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cholelithiasis — AUROC: 0.58758 R²: 0.01896 sex, age, array, PCs 1-10 —
PPM037572 PGS019390
(TPMI_575_Lassosum2)
 PSS013298|
East Asian Ancestry|
19,086 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other biliary tract disease — AUROC: 0.63162 R²: 0.01929 sex, age, array, PCs 1-10 —
PPM037573 PGS019391
(TPMI_575_LDpred2)
 PSS013297|
East Asian Ancestry|
19,086 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other biliary tract disease — AUROC: 0.63075 R²: 0.01931 sex, age, array, PCs 1-10 —
PPM037574 PGS019392
(TPMI_575_MegaPRS)
 PSS013299|
East Asian Ancestry|
19,086 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other biliary tract disease — AUROC: 0.62631 R²: 0.01769 sex, age, array, PCs 1-10 —
PPM037575 PGS019393
(TPMI_575_PRS-CS)
 PSS013300|
East Asian Ancestry|
19,086 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other biliary tract disease — AUROC: 0.62879 R²: 0.01838 sex, age, array, PCs 1-10 —
PPM037576 PGS019394
(TPMI_575_SBayesR)
 PSS013301|
East Asian Ancestry|
19,086 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other biliary tract disease — AUROC: 0.62573 R²: 0.01768 sex, age, array, PCs 1-10 —
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
PSS000811 — — 87,413 individuals — European — UKB —
PSS000812 — —
[
  • 11,629 cases
  • , 123,671 controls
]
 — European
(Finnish)		 — FinnGen —
PSS013301 575, 576, 793.3,K80.30, K80.31, K80.32, K80.33, K80.34, K80.35, K80.36, K80.37, K82, K83, K87, K91.5, R93.2 —
[
  • 475 cases
  • , 18,611 controls
]
,
46.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008664 — — 6,631 individuals — European Italy (South Europe) UKB —
PSS008665 — — 6,436 individuals — European Italy (South Europe) UKB —
PSS012273 — Median = 12.7 years
[
  • 11,017 cases
  • , 306,623 controls
]
,
48.1 % Male samples
 Mean = 56.7 years
Sd = 7.97 years		 European — UKB —
PSS013295 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007783 — — 2,477 individuals — African American or Afro-Caribbean Carribean UKB —
PSS007784 — — 2,432 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013296 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008438 — — 1,197 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS004334 — —
[
  • 136 cases
  • , 6,361 controls
]
 — African unspecified — UKB —
PSS004335 — —
[
  • 55 cases
  • , 1,649 controls
]
 — East Asian — UKB —
PSS004336 — —
[
  • 1,055 cases
  • , 23,850 controls
]
 — European non-white British ancestry UKB —
PSS004337 — —
[
  • 278 cases
  • , 7,553 controls
]
 — South Asian — UKB —
PSS004338 — —
[
  • 3,344 cases
  • , 64,081 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009336 — — 19,908 individuals — European UK (+ Ireland) UKB —
PSS009337 — — 19,288 individuals — European UK (+ Ireland) UKB —
PSS008439 — — 1,170 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009110 — — 4,121 individuals — European Poland (NE Europe) UKB —
PSS009111 — — 3,998 individuals — European Poland (NE Europe) UKB —
PSS008218 — — 6,310 individuals — South Asian India (South Asia) UKB —
PSS008219 — — 6,142 individuals — South Asian India (South Asia) UKB —
PSS013292 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS011364 — — 56,192 individuals — European — UKB —
PSS013293 575.6,K82.4 —
[
  • 154 cases
  • , 18,611 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013282 574.0, 574.1, 574.2,K80 —
[
  • 827 cases
  • , 18,611 controls
]
,
45.87 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013283 574.0, 574.1, 574.2,K80 —
[
  • 827 cases
  • , 18,611 controls
]
,
45.87 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013284 574.0, 574.1, 574.2,K80 —
[
  • 827 cases
  • , 18,611 controls
]
,
45.87 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013285 574.0, 574.1, 574.2,K80 —
[
  • 827 cases
  • , 18,611 controls
]
,
45.87 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013286 574.0, 574.1, 574.2,K80 —
[
  • 827 cases
  • , 18,611 controls
]
,
45.87 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013287 574, 575.0, 575.1,K80, K81 —
[
  • 875 cases
  • , 18,611 controls
]
,
45.91 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013288 574, 575.0, 575.1,K80, K81 —
[
  • 875 cases
  • , 18,611 controls
]
,
45.91 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013289 574, 575.0, 575.1,K80, K81 —
[
  • 875 cases
  • , 18,611 controls
]
,
45.91 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013290 574, 575.0, 575.1,K80, K81 —
[
  • 875 cases
  • , 18,611 controls
]
,
45.91 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013291 574, 575.0, 575.1,K80, K81 —
[
  • 875 cases
  • , 18,611 controls
]
,
45.91 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004139 — —
[
  • 158 cases
  • , 6,339 controls
]
 — African unspecified — UKB —
PSS004140 — —
[
  • 65 cases
  • , 1,639 controls
]
 — East Asian — UKB —
PSS004141 — —
[
  • 1,175 cases
  • , 23,730 controls
]
 — European non-white British ancestry UKB —
PSS004142 — —
[
  • 312 cases
  • , 7,519 controls
]
 — South Asian — UKB —
PSS004143 — —
[
  • 3,753 cases
  • , 63,672 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008887 — — 3,912 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008888 — — 3,852 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011920 — —
[
  • 1,784 cases
  • , 56,844 controls
]
 — East Asian
(Korean)		 — HEXA —
PSS013298 575, 576, 793.3,K80.30, K80.31, K80.32, K80.33, K80.34, K80.35, K80.36, K80.37, K82, K83, K87, K91.5, R93.2 —
[
  • 475 cases
  • , 18,611 controls
]
,
46.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013297 575, 576, 793.3,K80.30, K80.31, K80.32, K80.33, K80.34, K80.35, K80.36, K80.37, K82, K83, K87, K91.5, R93.2 —
[
  • 475 cases
  • , 18,611 controls
]
,
46.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013299 575, 576, 793.3,K80.30, K80.31, K80.32, K80.33, K80.34, K80.35, K80.36, K80.37, K82, K83, K87, K91.5, R93.2 —
[
  • 475 cases
  • , 18,611 controls
]
,
46.06 % 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 —
PSS007999 — — 1,806 individuals — East Asian China (East Asia) UKB —
PSS008000 — — 1,775 individuals — East Asian China (East Asia) UKB —
PSS013300 575, 576, 793.3,K80.30, K80.31, K80.32, K80.33, K80.34, K80.35, K80.36, K80.37, K82, K83, K87, K91.5, R93.2 —
[
  • 475 cases
  • , 18,611 controls
]
,
46.06 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —