Trait: cholelithiasis

Trait Information
Identifier MONDO_0012672
Description The presence of crystallized deposits forming in the gallbladder or biliary tree, primarily composed of cholesterol, bilirubin, and bile. [PMID: 29083691]
Trait category
Other trait
Synonym gallstones

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)
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
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
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
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

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
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
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 —
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 —
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 —

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
PSS008664 — — 6,631 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 —
PSS007783 — — 2,477 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008438 — — 1,197 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009336 — — 19,908 individuals — European UK (+ Ireland) UKB —
PSS009110 — — 4,121 individuals — European Poland (NE Europe) UKB —
PSS008218 — — 6,310 individuals — South Asian India (South Asia) UKB —
PSS011364 — — 56,192 individuals — European — UKB —
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 —
PSS011920 — —
[
  • 1,784 cases
  • , 56,844 controls
]
 — East Asian
(Korean)		 — HEXA —
PSS007999 — — 1,806 individuals — East Asian China (East Asia) UKB —