Trait: biliary tract disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009534
Description A disease involving the biliary tree.
Trait category
Digestive system disorder
Synonyms 6 synonyms
  • biliary tract disorder
  • biliary tree disease
  • biliary tree disease or disorder
  • disease of biliary tree
  • disease or disorder of biliary tree
  • disorder of biliary tree
Mapped terms 9 mapped terms
  • DOID:9741
  • ICD10:K83
  • ICD10:K83.9
  • ICD9:576.9
  • MESH:D001660
  • MONDO:0004868
  • MeSH:D001660
  • MedDRA:10004676
  • SCTID:105997008
Child trait(s) 2 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 disease" 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 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 cholelithiasis,
Cholecystitis
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 disease 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 cholelithiasis,
Cholecystitis
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 disease 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

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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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

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
PSS008664 6,631 individuals European Italy (South Europe) UKB
PSS008665 6,436 individuals European Italy (South Europe) UKB
PSS007783 2,477 individuals African American or Afro-Caribbean Carribean UKB
PSS007784 2,432 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
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
PSS011364 56,192 individuals European UKB
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
PSS007999 1,806 individuals East Asian China (East Asia) UKB
PSS008000 1,775 individuals East Asian China (East Asia) UKB