Trait: hepatobiliary disorder

Trait Information
Identifier MONDO_0002515
Description A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. [NCIT: P378]
Trait categories
Digestive system disorder
Other disease
Synonyms 9 synonyms
  • disease of hepatobiliary system
  • disease or disorder of hepatobiliary system
  • disorder of hepatobiliary system
  • hepatobiliary disorder
  • hepatobiliary system disease
  • hepatobiliary system disease or disorder
  • liver and biliary disease
  • liver and biliary disorder
  • liver and biliary system disorder
Child trait(s) 11 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 PGS for child terms of "hepatobiliary disorder" in the EFO hierarchy.
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)
PGS000655
(NAFLD-10)
PGP000119 |
Namjou B et al. BMC Med (2019)
Non-alcoholic fatty liver disease metabolic dysfunction-associated steatotic liver disease 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000655/ScoringFiles/PGS000655.txt.gz
PGS000704
(HC171)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Alcoholic cirrhosis alcoholic liver cirrhosis 183,271
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000704/ScoringFiles/PGS000704.txt.gz - Check Terms/Licenses
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
PGS000726
(PGS12_CIR)
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Cirrhosis cirrhosis of liver 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000726/ScoringFiles/PGS000726.txt.gz
PGS000776
(GRS9_Cirr)
PGP000180 |
Innes H et al. Gastroenterology (2020)
Cirrhosis cirrhosis of liver 9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000776/ScoringFiles/PGS000776.txt.gz
PGS000872
(PRS-5)
PGP000215 |
Bianco C et al. J Hepatol (2020)
Non-alcoholic fatty liver disease metabolic dysfunction-associated steatotic liver disease 5
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000872/ScoringFiles/PGS000872.txt.gz
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
PGS001293
(GBE_HC1123)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Other diseases of liver (time-to-event) liver disorder 92
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001293/ScoringFiles/PGS001293.txt.gz
PGS001777
(3-SNP_cirr)
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Cirrhosis (alcohol related) alcoholic liver cirrhosis 3
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001777/ScoringFiles/PGS001777.txt.gz
PGS001860
(portability-PLR_571.5)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Other chronic nonalcoholic liver disease liver disorder 497
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001860/ScoringFiles/PGS001860.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
PGS002071
(portability-ldpred2_571.5)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Other chronic nonalcoholic liver disease liver disorder 352,506
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002071/ScoringFiles/PGS002071.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
PGS002282
(GRS68_NAFLD)
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Nonalcoholic fatty liver disease metabolic dysfunction-associated steatotic liver disease 68
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002282/ScoringFiles/PGS002282.txt.gz
PGS002283
(GRS15_NAFLD)
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Nonalcoholic fatty liver disease metabolic dysfunction-associated steatotic liver disease 15
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002283/ScoringFiles/PGS002283.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
PGS004621
(cirrhosis_pgs_eur)
PGP000594 |
Ghouse J et al. Nat Genet (2024)
Cirrhosis cirrhosis of liver 1,089,806
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004621/ScoringFiles/PGS004621.txt.gz
PGS004913
(PRSALC)
PGP000645 |
Schwantes-An TH et al. Hepatol Commun (2024)
Alcohol-associated liver cirrhosis alcoholic liver cirrhosis 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004913/ScoringFiles/PGS004913.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
PGS012549
(PRS10_NAFLD)
PGP000792 |
Tang L et al. BMC Med (2023)
Nonalcoholic fatty liver disease metabolic dysfunction-associated steatotic liver disease 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012549/ScoringFiles/PGS012549.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
PGS018419
(TPMI_070_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis viral hepatitis 1,584
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018419/ScoringFiles/PGS018419.txt.gz
PGS018420
(TPMI_070_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis viral hepatitis 939,805
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018420/ScoringFiles/PGS018420.txt.gz
PGS018421
(TPMI_070_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis viral hepatitis 49,513
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018421/ScoringFiles/PGS018421.txt.gz
PGS018422
(TPMI_070_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis viral hepatitis 983,768
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018422/ScoringFiles/PGS018422.txt.gz
PGS018423
(TPMI_070_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis viral hepatitis 136,488
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018423/ScoringFiles/PGS018423.txt.gz
PGS018424
(TPMI_070.2_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis B hepatitis B virus infection 4,575
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018424/ScoringFiles/PGS018424.txt.gz
PGS018425
(TPMI_070.2_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis B hepatitis B virus infection 939,797
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018425/ScoringFiles/PGS018425.txt.gz
PGS018426
(TPMI_070.2_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis B hepatitis B virus infection 253,455
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018426/ScoringFiles/PGS018426.txt.gz
PGS018427
(TPMI_070.2_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis B hepatitis B virus infection 983,762
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018427/ScoringFiles/PGS018427.txt.gz
PGS018428
(TPMI_070.2_PRSmix+)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis B hepatitis B virus infection 1,071,340
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018428/ScoringFiles/PGS018428.txt.gz
PGS018429
(TPMI_070.2_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Viral hepatitis B hepatitis B virus infection 73,098
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018429/ScoringFiles/PGS018429.txt.gz
PGS018500
(TPMI_155_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018500/ScoringFiles/PGS018500.txt.gz
PGS018501
(TPMI_155_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 939,828
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018501/ScoringFiles/PGS018501.txt.gz
PGS018502
(TPMI_155_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 25,084
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018502/ScoringFiles/PGS018502.txt.gz
PGS018503
(TPMI_155_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 983,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018503/ScoringFiles/PGS018503.txt.gz
PGS018504
(TPMI_155_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Cancer of liver and intrahepatic bile duct liver cancer 977,058
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018504/ScoringFiles/PGS018504.txt.gz
PGS018505
(TPMI_155.1_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 76
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018505/ScoringFiles/PGS018505.txt.gz
PGS018506
(TPMI_155.1_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 939,828
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018506/ScoringFiles/PGS018506.txt.gz
PGS018507
(TPMI_155.1_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 24,458
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018507/ScoringFiles/PGS018507.txt.gz
PGS018508
(TPMI_155.1_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 983,777
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018508/ScoringFiles/PGS018508.txt.gz
PGS018509
(TPMI_155.1_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of liver primary liver cancer 973,600
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018509/ScoringFiles/PGS018509.txt.gz
PGS019355
(TPMI_571_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Chronic liver disease and cirrhosis alcoholic liver cirrhosis 383
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019355/ScoringFiles/PGS019355.txt.gz
PGS019356
(TPMI_571_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Chronic liver disease and cirrhosis alcoholic liver cirrhosis 939,833
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019356/ScoringFiles/PGS019356.txt.gz
PGS019357
(TPMI_571_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Chronic liver disease and cirrhosis alcoholic liver cirrhosis 53,187
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019357/ScoringFiles/PGS019357.txt.gz
PGS019358
(TPMI_571_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Chronic liver disease and cirrhosis alcoholic liver cirrhosis 983,786
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019358/ScoringFiles/PGS019358.txt.gz
PGS019359
(TPMI_571_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Chronic liver disease and cirrhosis alcoholic liver cirrhosis 711,573
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019359/ScoringFiles/PGS019359.txt.gz
PGS019360
(TPMI_571.5_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Other chronic nonalcoholic liver disease metabolic dysfunction-associated steatotic liver disease 17
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019360/ScoringFiles/PGS019360.txt.gz
PGS019361
(TPMI_571.5_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Other chronic nonalcoholic liver disease metabolic dysfunction-associated steatotic liver disease 939,879
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019361/ScoringFiles/PGS019361.txt.gz
PGS019362
(TPMI_571.5_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Other chronic nonalcoholic liver disease metabolic dysfunction-associated steatotic liver disease 40,372
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019362/ScoringFiles/PGS019362.txt.gz
PGS019363
(TPMI_571.5_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Other chronic nonalcoholic liver disease metabolic dysfunction-associated steatotic liver disease 983,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019363/ScoringFiles/PGS019363.txt.gz
PGS019364
(TPMI_571.5_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Other chronic nonalcoholic liver disease metabolic dysfunction-associated steatotic liver disease 513,027
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019364/ScoringFiles/PGS019364.txt.gz
PGS019365
(TPMI_571.51_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Cirrhosis of liver without mention of alcohol cirrhosis of liver 25
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019365/ScoringFiles/PGS019365.txt.gz
PGS019366
(TPMI_571.51_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Cirrhosis of liver without mention of alcohol cirrhosis of liver 20,027
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019366/ScoringFiles/PGS019366.txt.gz
PGS019367
(TPMI_571.51_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Cirrhosis of liver without mention of alcohol cirrhosis of liver 41,074
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019367/ScoringFiles/PGS019367.txt.gz
PGS019368
(TPMI_571.51_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Cirrhosis of liver without mention of alcohol cirrhosis of liver 983,776
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019368/ScoringFiles/PGS019368.txt.gz
PGS019369
(TPMI_571.51_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Cirrhosis of liver without mention of alcohol cirrhosis of liver 1,012,645
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019369/ScoringFiles/PGS019369.txt.gz
PGS019370
(TPMI_573_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Other disorders of liver liver disorder 98
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019370/ScoringFiles/PGS019370.txt.gz
PGS019371
(TPMI_573_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Other disorders of liver liver disorder 939,877
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019371/ScoringFiles/PGS019371.txt.gz
PGS019372
(TPMI_573_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Other disorders of liver liver disorder 37,901
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019372/ScoringFiles/PGS019372.txt.gz
PGS019373
(TPMI_573_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Other disorders of liver liver disorder 983,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019373/ScoringFiles/PGS019373.txt.gz
PGS019374
(TPMI_573_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Other disorders of liver liver disorder 481,850
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019374/ScoringFiles/PGS019374.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
PPM001341 PGS000655
(NAFLD-10)
PSS000584|
European Ancestry|
235 individuals
PGP000119 |
Namjou B et al. BMC Med (2019)
Reported Trait: Nonalcoholic fatty liver disease severity (NAFLD activity score above 5) — AUROC: 0.724 Odds Ratio (OR, highest vs. lowest quintile): 8.5 [3.45, 20.96] sex, age, PCs (1-3), BMI, study site/medical centre —
PPM001340 PGS000655
(NAFLD-10)
PSS000583|
European Ancestry|
9,677 individuals
PGP000119 |
Namjou B et al. BMC Med (2019)
Reported Trait: Nonalcoholic fatty liver disease — AUROC: 0.596 Odds Ratio (OR, highest vs. lowest quintile): 2.16 [1.81, 2.58] sex, age, PCs (1-3), BMI, study site/medical centre —
PPM001596 PGS000704
(HC171)
PSS000792|
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alcoholic cirrhosis — AUROC: 0.55471 — Age, sex, PCs(1-10) —
PPM001607 PGS000704
(HC171)
PSS000793|
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alcoholic cirrhosis HR: 1.18 [1.11, 1.27] C-index: 0.711 — Age as time scale, sex, batch, PCs(1-10) —
PPM022382 PGS000704
(HC171)
PSS011933|
Multi-ancestry (including European)|
312,599 individuals
PGP000708 |
Ding C et al. Nat Commun (2023)
|Ext.
Reported Trait: Alcohol-related cirrhosis HR: 1.67 [1.55, 1.8] — — sex, age, ethnicity, Townsend deprivation index at recruitment, physical activity, smoking, total weekly alcohol intake, beverage type, drinking with/without meal, daily alcohol consumption group, diabetes, BMI, first 10 principal genetic components, and genotyping array —
PPM022383 PGS000704
(HC171)
PSS011933|
Multi-ancestry (including European)|
312,599 individuals
PGP000708 |
Ding C et al. Nat Commun (2023)
|Ext.
Reported Trait: Alcoholic hepatitis HR: 1.32 [1.12, 1.57] — — sex, age, ethnicity, Townsend deprivation index at recruitment, physical activity, smoking, total weekly alcohol intake, beverage type, drinking with/without meal, daily alcohol consumption group, diabetes, BMI, first 10 principal genetic components, and genotyping array —
PPM022384 PGS000704
(HC171)
PSS011933|
Multi-ancestry (including European)|
312,599 individuals
PGP000708 |
Ding C et al. Nat Commun (2023)
|Ext.
Reported Trait: Alcohol-related cirrhosis x alcohol consumption interaction — — Hazard ratio (HR, heavy binge drinking and high PRS vs. below daily limit drinking and low PRS): 12.41 [4.96, 31.05] total weekly alcohol intake, diabetes, BMI, sex, age, ethnicity, Townsend deprivation index, physical activity, smoke, alcohol type, drinking with/without meals, genotyping array, and first 10 ancestry principal components —
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) —
PPM001656 PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis OR: 1.32 — Odds Ratio (OR, top 20% vs. bottom 20%): 2.26 [1.87, 2.73] Age, sex, PCs (1-5) —
PPM001657 PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Biopsy-confirmed cirrhosis OR: 1.39 — Odds Ratio (OR, top 20% vs. bottom 20%): 2.21 [1.59, 3.08] Age, sex, PCs (1-5) —
PPM001658 PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Esophageal varices OR: 1.45 — Odds Ratio (OR, top 20% vs. bottom 20%): 3.1 [1.97, 4.9] Age, sex, PCs (1-5) —
PPM001659 PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Hepatocellular carcioma OR: 1.39 — Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [1.59, 3.97] Age, sex, PCs (1-5) —
PPM001660 PGS000726
(PGS12_CIR)
PSS000861|
European Ancestry|
30,469 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Death from liver disease OR: 1.29 — Odds Ratio (OR, top 20% vs. bottom 20%): 2.03 [1.24, 3.32] Age, sex, PCs (1-5) —
PPM001661 PGS000726
(PGS12_CIR)
PSS000866|
African Ancestry|
1,442 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis — — Odds Ratio (OR, 20-80% vs. bottom 20%): 3.63 [1.55, 8.5]
Odds Ratio (OR, top 20% risk vs. bottom 20%): 2.44 [0.92, 6.48]
Age, sex, PCs (1-5) —
PPM001662 PGS000726
(PGS12_CIR)
PSS000863|
Ancestry Not Reported|
13,826 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis — — Odds Ratio (OR, top 1% vs. bottom 20%): 3.16 [2.03, 4.9] Age, sex, PCs (1-5) —
PPM001663 PGS000726
(PGS12_CIR)
PSS000862|
Ancestry Not Reported|
13,047 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Biopsy-confirmed cirrhosis — — Odds Ratio (OR, top 1% vs. bottom 20%): 6.12 [3.55, 10.58] Age, sex, PCs (1-5) —
PPM001664 PGS000726
(PGS12_CIR)
PSS000864|
European Ancestry|
213 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis in individuals with hepatitis B — — Odds ratio (OR, top 20% vs. bottom 20%): 4.83 [1.12, 20.0] Age, sex, PCs (1-5) —
PPM001665 PGS000726
(PGS12_CIR)
PSS000865|
European Ancestry|
661 individuals
PGP000136 |
Emdin CA et al. Gastroenterology (2020)
Reported Trait: Cirrhosis in individuals with hepatitis C — — Odds ratio (OR, top 20% vs. bottom 20%): 2.2 [1.2, 4.05] Age, sex, PCs (1-5) —
PPM030744 PGS000726
(PGS12_CIR)
PSS012276|
European Ancestry|
448,645 individuals
PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.
Reported Trait: Cirrhosis — — Hazard ratio (HR, high vs low tertile): 1.94 [1.72, 2.19] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —
PPM030745 PGS000726
(PGS12_CIR)
PSS012276|
European Ancestry|
448,645 individuals
PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.
Reported Trait: Compensated cirrhosis — — Hazard ratio (HR, high vs low tertile): 2.39 [2.06, 2.79] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —
PPM030746 PGS000726
(PGS12_CIR)
PSS012276|
European Ancestry|
448,645 individuals
PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.
Reported Trait: Decompensated cirrhosis — — Hazard ratio (HR, high vs low tertile): 1.89 [1.63, 2.2] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —
PPM030747 PGS000726
(PGS12_CIR)
PSS012276|
European Ancestry|
448,645 individuals
PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.
Reported Trait: Cirrhosis x Age-related mosaic chromosomal alterations interaction — — Hazard ratio (HR, with Age-related mosaic chromosomal alterations and high PRS vs. without Age-related mosaic chromosomal alterations and low PRS): 2.53 [1.74, 3.66] — —
PPM030748 PGS000726
(PGS12_CIR)
PSS012276|
European Ancestry|
448,645 individuals
PGP000819 |
Ge X et al. J Clin Transl Hepatol (2024)
|Ext.
Reported Trait: Cirrhosis x copy-neutral loss of heterozygosity interaction — — Hazard ratio (HR, with Cell fraction ≥10% and high PRS vs. LOH event - and low PRS): 5.39 [2.41, 12.07] age, age2, sex, smoking status, drinking status, the top 10 principal components of ancestry and genotyping batch —
PPM002011 PGS000776
(GRS9_Cirr)
PSS000996|
Ancestry Not Reported|
107,014 individuals
PGP000180 |
Innes H et al. Gastroenterology (2020)
Reported Trait: Incident liver cirrhosis in individuals at-risk for nonalcoholic fatty liver disease (time to first hospitilisation) — C-index: 0.62 [0.59, 0.64] Hazard Ratio (HR, top 20% vs bottom 20%): 3.12 [2.37, 4.12] — —
PPM002012 PGS000776
(GRS9_Cirr)
PSS000996|
Ancestry Not Reported|
107,014 individuals
PGP000180 |
Innes H et al. Gastroenterology (2020)
Reported Trait: Incident liver cirrhosis in individuals at-risk for nonalcoholic fatty liver disease (time to first hospitilisation) — — Hazard Ratio (HR, top 20% vs bottom 20%): 3.16 [2.38, 4.21] Age, sex, BMI, diabetes, units of alcohol consumed per week —
PPM002013 PGS000776
(GRS9_Cirr)
PSS000996|
Ancestry Not Reported|
107,014 individuals
PGP000180 |
Innes H et al. Gastroenterology (2020)
Reported Trait: Incident liver cirrhosis in individuals at-risk for nonalcoholic fatty liver disease (time to first hospitilisation) — C-index: 0.677 [0.653, 0.7] — Age, sex —
PPM002418 PGS000872
(PRS-5)
PSS001096|
European Ancestry|
364,048 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Cirrhosis OR: 4.4 [3.5, 5.6] — — — —
PPM002420 PGS000872
(PRS-5)
PSS001096|
European Ancestry|
364,048 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Cirrhosis OR: 4.5 [3.6, 5.7] — — Age, sex, body mass index, type 2 diabetes, PCs(1-10), array batch, assessment centre —
PPM002432 PGS000872
(PRS-5)
PSS001094|
European Ancestry|
2,564 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Severe fibrosis in individuals within stage F3-F4 of fatty liver disease OR: 9.4 [5.4, 16.2] — — Age, sex, body mass index, type 2 diabetes —
PPM002419 PGS000872
(PRS-5)
PSS001096|
European Ancestry|
364,048 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 11.9 [6.6, 21.3] — — — —
PPM002421 PGS000872
(PRS-5)
PSS001096|
European Ancestry|
364,048 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 11.7 [6.54, 21.0] — — Age, sex, body mass index, type 2 diabetes, PCs(1-10), array batch, assessment centre —
PPM002422 PGS000872
(PRS-5)
PSS001096|
European Ancestry|
364,048 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 4.8 [2.6, 8.9] — — Age, sex, body mass index, type 2 diabetes, PCs(1-10), array batch, assessment centre, diagnosis of cirrhosis —
PPM002428 PGS000872
(PRS-5)
PSS001094|
European Ancestry|
2,564 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Fatty liver disease OR: 9.0 [6.0, 13.4] — — — —
PPM002429 PGS000872
(PRS-5)
PSS001094|
European Ancestry|
2,564 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Severe fibrosis in individuals within stage F3-F4 of fatty liver disease OR: 12.6 [8.2, 19.3] — — — —
PPM002430 PGS000872
(PRS-5)
PSS001094|
European Ancestry|
2,564 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 9.1 [5.2, 16.0] — — — —
PPM002431 PGS000872
(PRS-5)
PSS001094|
European Ancestry|
2,564 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Fatty liver disease OR: 10.7 [6.6, 17.3] — — Age, sex, body mass index, type 2 diabetes —
PPM002433 PGS000872
(PRS-5)
PSS001094|
European Ancestry|
2,564 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 3.3 [1.6, 6.9] — — Age, sex, body mass index, type 2 diabetes —
PPM002440 PGS000872
(PRS-5)
PSS001094|
European Ancestry|
2,564 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 2.9 [2.1, 3.8] AUROC: 0.65 — Age, sex, body mass index, type 2 diabetes Only 2,245 participants were available for this analysis.
PPM002443 PGS000872
(PRS-5)
PSS001097|
European Ancestry|
356,943 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 3.4 [2.5, 4.7] AUROC: 0.63 — Age, sex, body mass index, type 2 diabetes, PCs(1-10), array batch, assessment centre PRS-5 was treated as a binary variable with a cutoff of ≥0.495
PPM002445 PGS000872
(PRS-5)
PSS001101|
European Ancestry|
355,450 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma in individuals with no cirrhosis OR: 1.9 [1.1, 3.2] AUROC: 0.54 — Age, sex, body mass index, type 2 diabetes, PCs(1-10), array batch, assessment centre PRS-5 was treated as a binary variable with a cutoff of ≥0.495
PPM002447 PGS000872
(PRS-5)
PSS001098|
European Ancestry|
85,890 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma in individuals with a body mass index ≥30 OR: 5.5 [3.6, 8.5] AUROC: 0.69 — Age, sex, body mass index, type 2 diabetes, PCs(1-10), array batch, assessment centre PRS-5 was treated as a binary variable with a cutoff of ≥0.495
PPM002449 PGS000872
(PRS-5)
PSS001103|
European Ancestry|
25,039 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma in individuals with type 2 diabetes OR: 4.6 [2.9, 7.3] AUROC: 0.71 — Age, sex, body mass index, type 2 diabetes, PCs(1-10), array batch, assessment centre PRS-5 was treated as a binary variable with a cutoff of ≥0.495
PPM002451 PGS000872
(PRS-5)
PSS001095|
Ancestry Not Reported|
429 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 8.61 [3.31, 22.37] AUROC: 0.65 — — —
PPM002453 PGS000872
(PRS-5)
PSS001095|
Ancestry Not Reported|
429 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 6.36 [1.67, 24.31] — — Age, sex, body mass index, type 2 diabetes —
PPM002455 PGS000872
(PRS-5)
PSS001095|
Ancestry Not Reported|
429 individuals
PGP000215 |
Bianco C et al. J Hepatol (2020)
Reported Trait: Hepatocellular carcinoma OR: 2.4 [1.19, 4.83] — — — PRS-5 was treated as a binary variable with a cutoff of ≥0.495
PPM019102 PGS000872
(PRS-5)
PSS011182|
European Ancestry|
381,825 individuals
PGP000505 |
Liu Z et al. Liver Int (2023)
|Ext.
Reported Trait: Non-alcoholic fatty liver disease — — p-value (inferior to): 0.001 age, sex, ethnicity, Townsend deprivation index (quintiles), education level, household income, employment status, self-reported smoking status, self-reported frequency of alcohol intake, sedentary behaviour, body mass index, baseline diabetes, baseline hypertension, serum triglyceride level, C-reactive protein level, and eGFR —
PPM019103 PGS000872
(PRS-5)
PSS011182|
European Ancestry|
381,825 individuals
PGP000505 |
Liu Z et al. Liver Int (2023)
|Ext.
Reported Trait: Severe liver disease — — p-value (inferior to): 0.001 age, sex, ethnicity, Townsend deprivation index (quintiles), education level, household income, employment status, self-reported smoking status, self-reported frequency of alcohol intake, sedentary behaviour, body mass index, baseline diabetes, baseline hypertension, serum triglyceride level, C-reactive protein level, and eGFR —
PPM019104 PGS000872
(PRS-5)
PSS011182|
European Ancestry|
381,825 individuals
PGP000505 |
Liu Z et al. Liver Int (2023)
|Ext.
Reported Trait: Serum uric acid levels x PRS interaction for liver disease HR: 1.03 [1.01, 1.05] — — age, sex, ethnicity, Townsend deprivation index (quintiles), education level, household income, employment status, self-reported smoking status, self-reported frequency of alcohol intake, sedentary behaviour, body mass index, baseline diabetes, baseline hypertension, serum triglyceride level, C-reactive protein level, and eGFR —
PPM019105 PGS000872
(PRS-5)
PSS011182|
European Ancestry|
381,825 individuals
PGP000505 |
Liu Z et al. Liver Int (2023)
|Ext.
Reported Trait: Serum uric acid levels x PRS interaction for severe liver disease HR: 1.06 [1.03, 1.1] — — age, sex, ethnicity, Townsend deprivation index (quintiles), education level, household income, employment status, self-reported smoking status, self-reported frequency of alcohol intake, sedentary behaviour, body mass index, baseline diabetes, baseline hypertension, serum triglyceride level, C-reactive protein level, and eGFR —
PPM019101 PGS000872
(PRS-5)
PSS011182|
European Ancestry|
381,825 individuals
PGP000505 |
Liu Z et al. Liver Int (2023)
|Ext.
Reported Trait: Liver disease — — p-value (inferior to): 0.001 age, sex, ethnicity, Townsend deprivation index (quintiles), education level, household income, employment status, self-reported smoking status, self-reported frequency of alcohol intake, sedentary behaviour, body mass index, baseline diabetes, baseline hypertension, serum triglyceride level, C-reactive protein level, and eGFR —
PPM021276 PGS000872
(PRS-5)
PSS011674|
European Ancestry|
5,209 individuals
PGP000622 |
Åberg F et al. Liver Int (2023)
|Ext.
Reported Trait: Liver-related hospitalization, hepatocellular cancer or liver-related death HR: 5.05 [1.55, 16.5] — — Enhanced liver fibrosis (ELF) test, chronic liver disease (CLivD) score PGS did not increase predictive performance over ELF test + CLivD score
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
PPM008963 PGS001293
(GBE_HC1123)
PSS004134|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other diseases of liver — AUROC: 0.63246 [0.57311, 0.69181] R²: 0.03109
Incremental AUROC (full-covars): -0.0062
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.50545 [0.44895, 0.56196]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008964 PGS001293
(GBE_HC1123)
PSS004135|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other diseases of liver — AUROC: 0.69904 [0.62545, 0.77263] PGS R2 (no covariates): 0.01113
Incremental AUROC (full-covars): 0.02137
R²: 0.05749
PGS AUROC (no covariates): 0.60324 [0.52305, 0.68342]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008965 PGS001293
(GBE_HC1123)
PSS004136|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other diseases of liver — AUROC: 0.63842 [0.61377, 0.66307] R²: 0.02524
Incremental AUROC (full-covars): 0.02435
PGS R2 (no covariates): 0.01187
PGS AUROC (no covariates): 0.59189 [0.56464, 0.61913]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008966 PGS001293
(GBE_HC1123)
PSS004137|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other diseases of liver — AUROC: 0.60451 [0.56674, 0.64227] R²: 0.01731
Incremental AUROC (full-covars): 0.00746
PGS R2 (no covariates): 0.00179
PGS AUROC (no covariates): 0.53523 [0.49417, 0.57629]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008967 PGS001293
(GBE_HC1123)
PSS004138|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE other diseases of liver — AUROC: 0.58372 [0.56726, 0.60017] R²: 0.00961
Incremental AUROC (full-covars): 0.01977
PGS R2 (no covariates): 0.00443
PGS AUROC (no covariates): 0.5536 [0.53634, 0.57086]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009254 PGS001777
(3-SNP_cirr)
PSS007668|
European Ancestry|
1,766 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis (females) β: 0.897 (0.172) AUROC: 0.635 (0.025) Odds Ratio (OR, top 20% vs bottom 20%): 3.81 [2.05, 7.07] — —
PPM009255 PGS001777
(3-SNP_cirr)
PSS007669|
European Ancestry|
6,898 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis (males) β: 0.8 (0.088) AUROC: 0.635 (0.016) Odds Ratio (OR, top 20% vs bottom 20%): 3.44 [2.48, 4.77] — —
PPM009256 PGS001777
(3-SNP_cirr)
PSS007669|
European Ancestry|
6,898 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis (females) — AUROC: 0.554 (0.036) Odds Ratio (OR, top 20% vs bottom 20%): 2.08 [1.11, 3.89] — —
PPM009247 PGS001777
(3-SNP_cirr)
PSS007667|
European Ancestry|
1,390 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis β: 1.092 (0.099) AUROC: 0.665 (0.014) Odds Ratio (OR, top 20% vs bottom 20%): 5.99 [4.18, 8.6] — —
PPM009248 PGS001777
(3-SNP_cirr)
PSS007668|
European Ancestry|
1,766 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis β: 0.669 (0.09) AUROC: 0.606 (0.014) Odds Ratio (OR, top 20% vs bottom 20%): 2.81 [2.03, 3.89] — —
PPM009249 PGS001777
(3-SNP_cirr)
PSS007669|
European Ancestry|
6,898 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis β: 0.729 (0.08) AUROC: 0.619 (0.014) Odds Ratio (OR, top 20% vs bottom 20%): 3.1 [2.32, 4.14] — —
PPM009250 PGS001777
(3-SNP_cirr)
PSS007669|
European Ancestry|
6,898 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis β: 0.748 (0.073) AUROC: 0.636 (0.015) Odds Ratio (OR, top 20% vs bottom 20%): 3.37 [2.38, 4.78] BMI, coffee —
PPM009251 PGS001777
(3-SNP_cirr)
PSS007667|
European Ancestry|
1,390 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis (males) β: 1.132 (0.116) AUROC: 0.671 (0.016) Odds Ratio (OR, top 20% vs bottom 20%): 6.18 [4.05, 9.41] — —
PPM009252 PGS001777
(3-SNP_cirr)
PSS007667|
European Ancestry|
1,390 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis (females) β: 0.974 (0.192) AUROC: 0.65 (0.027) Odds Ratio (OR, top 20% vs bottom 20%): 5.4 [2.67, 10.92] — —
PPM009253 PGS001777
(3-SNP_cirr)
PSS007668|
European Ancestry|
1,766 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis (males) β: 0.575 (0.107) AUROC: 0.592 (0.017) Odds Ratio (OR, top 20% vs bottom 20%): 2.47 [1.68, 3.62] — —
PPM009257 PGS001777
(3-SNP_cirr)
PSS007667|
European Ancestry|
1,390 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis in diabetics — — Odds Ratio (OR, high vs. low PRS): 5.32 [2.06, 13.7] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009258 PGS001777
(3-SNP_cirr)
PSS007667|
European Ancestry|
1,390 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis in non-diabetics — — Odds Ratio (OR, high vs. low PRS): 4.77 [3.45, 6.58] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009259 PGS001777
(3-SNP_cirr)
PSS007669|
European Ancestry|
6,898 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis in diabetics — — Odds Ratio (OR, high vs. low PRS): 3.74 [2.16, 6.48] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009260 PGS001777
(3-SNP_cirr)
PSS007669|
European Ancestry|
6,898 individuals
PGP000258 |
Whitfield JB et al. J Hepatol (2021)
Reported Trait: Cirrhosis in non-diabetics — — Odds Ratio (OR, high vs. low PRS): 2.37 [1.86, 3.03] — PRS Thresholds: Low (<= 0), High( >0.70)
PPM009769 PGS001860
(portability-PLR_571.5)
PSS009335|
European Ancestry|
19,586 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0413 [0.0273, 0.0553] sex, age, birth date, deprivation index, 16 PCs —
PPM009770 PGS001860
(portability-PLR_571.5)
PSS009109|
European Ancestry|
4,060 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.034 [0.0032, 0.0648] sex, age, birth date, deprivation index, 16 PCs —
PPM009771 PGS001860
(portability-PLR_571.5)
PSS008663|
European Ancestry|
6,543 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0281 [0.0038, 0.0523] sex, age, birth date, deprivation index, 16 PCs —
PPM009772 PGS001860
(portability-PLR_571.5)
PSS008437|
Greater Middle Eastern Ancestry|
1,185 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0168 [-0.0407, 0.0741] sex, age, birth date, deprivation index, 16 PCs —
PPM009773 PGS001860
(portability-PLR_571.5)
PSS008217|
South Asian Ancestry|
6,209 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0246 sex, age, birth date, deprivation index, 16 PCs —
PPM009774 PGS001860
(portability-PLR_571.5)
PSS007998|
East Asian Ancestry|
1,783 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0455 [-0.0012, 0.092] sex, age, birth date, deprivation index, 16 PCs —
PPM009775 PGS001860
(portability-PLR_571.5)
PSS007782|
African Ancestry|
2,429 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): -0.013 [-0.0529, 0.0269] sex, age, birth date, deprivation index, 16 PCs —
PPM009776 PGS001860
(portability-PLR_571.5)
PSS008886|
African Ancestry|
3,837 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): -0.0259 [-0.0576, 0.0058] sex, age, birth date, deprivation index, 16 PCs —
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 —
PPM011429 PGS002071
(portability-ldpred2_571.5)
PSS009335|
European Ancestry|
19,586 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0415 [0.0275, 0.0555] sex, age, birth date, deprivation index, 16 PCs —
PPM011430 PGS002071
(portability-ldpred2_571.5)
PSS009109|
European Ancestry|
4,060 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.029 [-0.0018, 0.0598] sex, age, birth date, deprivation index, 16 PCs —
PPM011431 PGS002071
(portability-ldpred2_571.5)
PSS008663|
European Ancestry|
6,543 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0289 [0.0047, 0.0532] sex, age, birth date, deprivation index, 16 PCs —
PPM011432 PGS002071
(portability-ldpred2_571.5)
PSS008437|
Greater Middle Eastern Ancestry|
1,185 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0227 [-0.0348, 0.08] sex, age, birth date, deprivation index, 16 PCs —
PPM011433 PGS002071
(portability-ldpred2_571.5)
PSS008217|
South Asian Ancestry|
6,209 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.0224 [-0.0025, 0.0473] sex, age, birth date, deprivation index, 16 PCs —
PPM011434 PGS002071
(portability-ldpred2_571.5)
PSS007998|
East Asian Ancestry|
1,783 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): 0.043 [-0.0037, 0.0895] sex, age, birth date, deprivation index, 16 PCs —
PPM011435 PGS002071
(portability-ldpred2_571.5)
PSS007782|
African Ancestry|
2,429 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): -0.0077 [-0.0476, 0.0323] sex, age, birth date, deprivation index, 16 PCs —
PPM011436 PGS002071
(portability-ldpred2_571.5)
PSS008886|
African Ancestry|
3,837 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Other chronic nonalcoholic liver disease — — Partial Correlation (partial-r): -0.0167 [-0.0484, 0.015] 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 —
PPM012973 PGS002282
(GRS68_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels β: 0.13 (0.002) — — — —
PPM012975 PGS002282
(GRS68_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels x physical activity interaction β: -0.28 (0.053) — — — —
PPM012976 PGS002282
(GRS68_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels x grip strength interaction β: -0.0067 (0.002) — — — —
PPM012977 PGS002282
(GRS68_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels x BMI interaction β: 0.037 (0.002) — — — —
PPM012981 PGS002282
(GRS68_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: Nonalcoholic fatty liver disease in those with normal weight and high level of physical activity — — Odds Ratio (OR, high vs. low GRS): 1.6 Sex, age, socioeconomic status, assessment center, genotyping array, and the first 10 principal components —
PPM012974 PGS002283
(GRS15_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels β: 0.094 (0.002) — — — —
PPM012978 PGS002283
(GRS15_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels x physical activity interaction β: -0.3 (0.053) — — — —
PPM012979 PGS002283
(GRS15_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels x grip strength interaction β: -0.011 (0.002) — — — —
PPM012980 PGS002283
(GRS15_NAFLD)
PSS009638|
European Ancestry|
25,716 individuals
PGP000312 |
Schnurr TM et al. Hepatol Commun (2022)
Reported Trait: ALT levels x BMI interaction β: 0.039 (0.002) — — — —
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 — — — —
PPM020806 PGS004621
(cirrhosis_pgs_eur)
PSS011418|
European Ancestry|
1,153,995 individuals
PGP000594 |
Ghouse J et al. Nat Genet (2024)
Reported Trait: Cirrhosis OR: 1.42 AUROC: 0.68 — age,sex,10 PCs —
PPM021374 PGS004913
(PRSALC)
PSS011711|
European Ancestry|
9,448 individuals
PGP000645 |
Schwantes-An TH et al. Hepatol Commun (2024)
Reported Trait: Alcohol-associated liver cirrhosis — — R²: 0.02
Odds ratio (OR, top vs bottom PRS deciles): 2.75 [1.79, 4.21]
Age, sex, 10 PCs —
PPM021375 PGS004913
(PRSALC)
PSS011709|
European Ancestry|
3,360 individuals
PGP000645 |
Schwantes-An TH et al. Hepatol Commun (2024)
Reported Trait: Alcohol-associated liver cirrhosis — — R²: 0.029
Odds ratio (OR, top vs bottom PRS deciles): 4.4 [1.56, 12.44]
Age, sex, 10 PCs —
PPM021376 PGS004913
(PRSALC)
PSS011710|
European Ancestry|
3,709 individuals
PGP000645 |
Schwantes-An TH et al. Hepatol Commun (2024)
Reported Trait: Metabolic dysfunction-associated steatotic liver disease cirrhosis — — Odds ratio (OR, top vs bottom PRS deciles): 3.94 [2.23, 6.95] Age, sex, BMI, 10 PCs —
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 —
PPM030658 PGS012549
(PRS10_NAFLD)
PSS012225|
Multi-ancestry (including European)|
465,032 individuals
PGP000792 |
Tang L et al. BMC Med (2023)
Reported Trait: Nonalcoholic fatty liver disease x telomere length interaction — — Hazard ratio (HR, high telomere length tertile and high PRS vs. low telomere length tertile and low PRS): 1.99 [1.74, 2.27] age, gender, ethnicity, Townsend deprivation index, BMI, cholesterol, hypertension, diabetes, lifestyle, air pollution score, the top 10 genetic principal components, and genotyping batch —
PPM030657 PGS012549
(PRS10_NAFLD)
PSS012225|
Multi-ancestry (including European)|
465,032 individuals
PGP000792 |
Tang L et al. BMC Med (2023)
Reported Trait: Nonalcoholic fatty liver disease HR: 1.23 [1.2, 1.27] — — age, gender, ethnicity, Townsend deprivation index, BMI, cholesterol, hypertension, diabetes, lifestyle, air pollution score, the top 10 genetic principal components, and genotyping batch —
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 —
PPM036601 PGS018419
(TPMI_070_Lassosum2)
PSS012338|
East Asian Ancestry|
18,392 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis — AUROC: 0.66584 R²: 0.09632 sex, age, array, PCs 1-10 —
PPM036602 PGS018420
(TPMI_070_LDpred2)
PSS012337|
East Asian Ancestry|
18,392 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis — AUROC: 0.66706 R²: 0.09753 sex, age, array, PCs 1-10 —
PPM036603 PGS018421
(TPMI_070_MegaPRS)
PSS012339|
East Asian Ancestry|
18,392 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis — AUROC: 0.65859 R²: 0.08984 sex, age, array, PCs 1-10 —
PPM036604 PGS018422
(TPMI_070_PRS-CS)
PSS012340|
East Asian Ancestry|
18,392 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis — AUROC: 0.66524 R²: 0.09576 sex, age, array, PCs 1-10 —
PPM036605 PGS018423
(TPMI_070_SBayesR)
PSS012341|
East Asian Ancestry|
18,392 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis — AUROC: 0.66205 R²: 0.09237 sex, age, array, PCs 1-10 —
PPM036606 PGS018424
(TPMI_070.2_Lassosum2)
PSS012322|
East Asian Ancestry|
16,415 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis B — AUROC: 0.73149 R²: 0.12951 sex, age, array, PCs 1-10 —
PPM036607 PGS018425
(TPMI_070.2_LDpred2)
PSS012321|
East Asian Ancestry|
16,415 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis B — AUROC: 0.73251 R²: 0.13063 sex, age, array, PCs 1-10 —
PPM036608 PGS018426
(TPMI_070.2_MegaPRS)
PSS012323|
East Asian Ancestry|
16,415 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis B — AUROC: 0.70874 R²: 0.10883 sex, age, array, PCs 1-10 —
PPM036609 PGS018427
(TPMI_070.2_PRS-CS)
PSS012324|
East Asian Ancestry|
16,415 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis B — AUROC: 0.72807 R²: 0.12453 sex, age, array, PCs 1-10 —
PPM036610 PGS018428
(TPMI_070.2_PRSmix+)
PSS012325|
East Asian Ancestry|
16,415 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis B — AUROC: 0.73833 R²: 0.13621 sex, age, array, PCs 1-10 —
PPM036611 PGS018429
(TPMI_070.2_SBayesR)
PSS012326|
East Asian Ancestry|
16,415 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Viral hepatitis B — AUROC: 0.71321 R²: 0.11347 sex, age, array, PCs 1-10 —
PPM036682 PGS018500
(TPMI_155_Lassosum2)
PSS012408|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.65034 R²: 0.0208 sex, age, array, PCs 1-10 —
PPM036683 PGS018501
(TPMI_155_LDpred2)
PSS012407|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.6513 R²: 0.02088 sex, age, array, PCs 1-10 —
PPM036684 PGS018502
(TPMI_155_MegaPRS)
PSS012409|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.64296 R²: 0.01875 sex, age, array, PCs 1-10 —
PPM036685 PGS018503
(TPMI_155_PRS-CS)
PSS012410|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.65049 R²: 0.02078 sex, age, array, PCs 1-10 —
PPM036686 PGS018504
(TPMI_155_SBayesR)
PSS012411|
East Asian Ancestry|
15,739 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cancer of liver and intrahepatic bile duct — AUROC: 0.64158 R²: 0.01837 sex, age, array, PCs 1-10 —
PPM036687 PGS018505
(TPMI_155.1_Lassosum2)
PSS012403|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.65226 R²: 0.01923 sex, age, array, PCs 1-10 —
PPM036688 PGS018506
(TPMI_155.1_LDpred2)
PSS012402|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.65258 R²: 0.0191 sex, age, array, PCs 1-10 —
PPM036689 PGS018507
(TPMI_155.1_MegaPRS)
PSS012404|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.64163 R²: 0.01662 sex, age, array, PCs 1-10 —
PPM036690 PGS018508
(TPMI_155.1_PRS-CS)
PSS012405|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.6475 R²: 0.01834 sex, age, array, PCs 1-10 —
PPM036691 PGS018509
(TPMI_155.1_SBayesR)
PSS012406|
East Asian Ancestry|
15,712 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of liver primary — AUROC: 0.64158 R²: 0.01663 sex, age, array, PCs 1-10 —
PPM037537 PGS019355
(TPMI_571_Lassosum2)
PSS013268|
East Asian Ancestry|
18,730 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Chronic liver disease and cirrhosis — AUROC: 0.64281 R²: 0.06977 sex, age, array, PCs 1-10 —
PPM037538 PGS019356
(TPMI_571_LDpred2)
PSS013267|
East Asian Ancestry|
18,730 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Chronic liver disease and cirrhosis — AUROC: 0.64424 R²: 0.07074 sex, age, array, PCs 1-10 —
PPM037539 PGS019357
(TPMI_571_MegaPRS)
PSS013269|
East Asian Ancestry|
18,730 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Chronic liver disease and cirrhosis — AUROC: 0.63961 R²: 0.06771 sex, age, array, PCs 1-10 —
PPM037540 PGS019358
(TPMI_571_PRS-CS)
PSS013270|
East Asian Ancestry|
18,730 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Chronic liver disease and cirrhosis — AUROC: 0.64417 R²: 0.07095 sex, age, array, PCs 1-10 —
PPM037541 PGS019359
(TPMI_571_SBayesR)
PSS013271|
East Asian Ancestry|
18,730 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Chronic liver disease and cirrhosis — AUROC: 0.64095 R²: 0.0684 sex, age, array, PCs 1-10 —
PPM037542 PGS019360
(TPMI_571.5_Lassosum2)
PSS013263|
East Asian Ancestry|
17,248 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other chronic nonalcoholic liver disease — AUROC: 0.63741 R²: 0.04831 sex, age, array, PCs 1-10 —
PPM037543 PGS019361
(TPMI_571.5_LDpred2)
PSS013262|
East Asian Ancestry|
17,248 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other chronic nonalcoholic liver disease — AUROC: 0.64097 R²: 0.05021 sex, age, array, PCs 1-10 —
PPM037544 PGS019362
(TPMI_571.5_MegaPRS)
PSS013264|
East Asian Ancestry|
17,248 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other chronic nonalcoholic liver disease — AUROC: 0.63636 R²: 0.04788 sex, age, array, PCs 1-10 —
PPM037545 PGS019363
(TPMI_571.5_PRS-CS)
PSS013265|
East Asian Ancestry|
17,248 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other chronic nonalcoholic liver disease — AUROC: 0.6399 R²: 0.04984 sex, age, array, PCs 1-10 —
PPM037546 PGS019364
(TPMI_571.5_SBayesR)
PSS013266|
East Asian Ancestry|
17,248 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other chronic nonalcoholic liver disease — AUROC: 0.63748 R²: 0.04844 sex, age, array, PCs 1-10 —
PPM037547 PGS019365
(TPMI_571.51_Lassosum2)
PSS013258|
East Asian Ancestry|
16,177 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cirrhosis of liver without mention of alcohol — AUROC: 0.6726 R²: 0.04527 sex, age, array, PCs 1-10 —
PPM037548 PGS019366
(TPMI_571.51_LDpred2)
PSS013257|
East Asian Ancestry|
16,177 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cirrhosis of liver without mention of alcohol — AUROC: 0.67568 R²: 0.04607 sex, age, array, PCs 1-10 —
PPM037549 PGS019367
(TPMI_571.51_MegaPRS)
PSS013259|
East Asian Ancestry|
16,177 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cirrhosis of liver without mention of alcohol — AUROC: 0.65832 R²: 0.0395 sex, age, array, PCs 1-10 —
PPM037550 PGS019368
(TPMI_571.51_PRS-CS)
PSS013260|
East Asian Ancestry|
16,177 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cirrhosis of liver without mention of alcohol — AUROC: 0.6721 R²: 0.04481 sex, age, array, PCs 1-10 —
PPM037551 PGS019369
(TPMI_571.51_SBayesR)
PSS013261|
East Asian Ancestry|
16,177 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cirrhosis of liver without mention of alcohol — AUROC: 0.66588 R²: 0.04222 sex, age, array, PCs 1-10 —
PPM037552 PGS019370
(TPMI_573_Lassosum2)
PSS013278|
East Asian Ancestry|
17,690 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other disorders of liver — AUROC: 0.65124 R²: 0.06577 sex, age, array, PCs 1-10 —
PPM037553 PGS019371
(TPMI_573_LDpred2)
PSS013277|
East Asian Ancestry|
17,690 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other disorders of liver — AUROC: 0.65109 R²: 0.06577 sex, age, array, PCs 1-10 —
PPM037554 PGS019372
(TPMI_573_MegaPRS)
PSS013279|
East Asian Ancestry|
17,690 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other disorders of liver — AUROC: 0.64866 R²: 0.06493 sex, age, array, PCs 1-10 —
PPM037555 PGS019373
(TPMI_573_PRS-CS)
PSS013280|
East Asian Ancestry|
17,690 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other disorders of liver — AUROC: 0.6524 R²: 0.06666 sex, age, array, PCs 1-10 —
PPM037556 PGS019374
(TPMI_573_SBayesR)
PSS013281|
East Asian Ancestry|
17,690 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Other disorders of liver — AUROC: 0.65143 R²: 0.06603 sex, age, array, PCs 1-10 —
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
PSS008663 — — 6,543 individuals — European Italy (South Europe) UKB —
PSS008664 — — 6,631 individuals — European Italy (South Europe) UKB —
PSS008665 — — 6,436 individuals — European Italy (South Europe) UKB —
PSS011709 — —
[
  • 121 cases
  • , 3,239 controls
]
— European — IB-liver —
PSS011710 — —
[
  • 470 cases
  • , 3,239 controls
]
— European — IB-liver —
PSS011711 Cirrhosis cases were defined as having ICD10 code K70.3; “alcohol-associated cirrhosis of liver', or ICD-9 code 571.2, “Cirrhosis, liver, alcohol-associated or ICD10 code K70.1; “alcoholic hepatitis without ascites” or ICD-9 code 571.1, “acute alcoholic hepatitis.” Controls were defined as having (1) reported alcohol intake of ≥80 g/d (males) and ≥50 g/d (females) and/or (2) ICD10 diagnosis of F10.2 (mental and behavioral disorders due to alcohol) but with no recorded diagnosis of any liver disease as defined previously —
[
  • 467 cases
  • , 8,981 controls
]
— European — UKB —
PSS008217 — — 6,209 individuals — South Asian India (South Asia) UKB —
PSS008218 — — 6,310 individuals — South Asian India (South Asia) UKB —
PSS008219 — — 6,142 individuals — South Asian India (South Asia) UKB —
PSS000996 All individuals (cases and controls) met the at-risk criteria for nonalcoholic fatty liver disease (NAFLD) defined as a BMI ≥30 kg/m2 or diagnosis of type 2 diabetes, or both, without evidence of any other cause of liver disease including excess alcohol . Cases were individuals who had been hospitalised with cirrhosis for the first time. A hospital admission for cirrhosis was defined according to the Ratib et al (PMID: 24419483) validated algorithm incorporating appropriate ICD discharge codes and OPCS Classification of Interventions and Procedures version 4 codes. Mean = 7.9 years
[
  • 562 cases
  • , 106,452 controls
]
,
43.0 % Male samples
Median = 59.0 years
Range = [52.0, 64.0] years
Not reported — UKB GRS dataset used to test/ evaluate performance of GRS. The GRS dataset is independent of the discovery analysis datasets containing UKB participants. Possible sample overlap between the GRS dataset and the phase 1 replication/validation analysis and phase 2 replication analysis datasets containing UKB participants.
PSS000792 — — 87,413 individuals — European — UKB —
PSS000793 ICD-10 K70 —
[
  • 845 cases
  • , 134,455 controls
]
— European
(Finnish)
— FinnGen —
PSS011920 — —
[
  • 1,784 cases
  • , 56,844 controls
]
— East Asian
(Korean)
— HEXA —
PSS012225 — —
[
  • 4,809 cases
  • , 4,283 controls
]
— European — UKB —
PSS012225 — —
[
  • 178 cases
  • , 16,114 controls
]
— Asian unspecified — UKB —
PSS012225 — —
[
  • 35 cases
  • , 2,595 controls
]
— African American or Afro-Caribbean
(Black)
— UKB —
PSS012225 — —
[
  • 12 cases
  • , 1,419 controls
]
— East Asian
(Chinese)
— UKB —
PSS012225 — —
[
  • 262 cases
  • , 21,014 controls
]
— Not reported — UKB —
PSS000811 — — 87,413 individuals — European — UKB —
PSS000812 — —
[
  • 11,629 cases
  • , 123,671 controls
]
— European
(Finnish)
— FinnGen —
PSS011933 — — 294,816 individuals — European — UKB —
PSS011933 — — 17,783 individuals — Not reported — UKB —
PSS007782 — — 2,429 individuals — African American or Afro-Caribbean Carribean UKB —
PSS007783 — — 2,477 individuals — African American or Afro-Caribbean Carribean UKB —
PSS007784 — — 2,432 individuals — African American or Afro-Caribbean Carribean 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)
PSS009335 — — 19,586 individuals — European UK (+ Ireland) UKB —
PSS009336 — — 19,908 individuals — European UK (+ Ireland) UKB —
PSS009337 — — 19,288 individuals — European UK (+ Ireland) UKB —
PSS009638 — — 25,716 individuals,
41.5 % Male samples
Mean = 56.0 years
Sd = 7.7 years
European — UKB —
PSS000861 Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices). —
[
  • 1,137 cases
  • , 29,332 controls
]
— European — PHB —
PSS000862 Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices). —
[
  • 339 cases
  • , 12,708 controls
]
— NR — PHB —
PSS000863 Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices). —
[
  • 1,137 cases
  • , 12,689 controls
]
— NR — PHB —
PSS000864 All individuals had hepatitis B. Cases included individuals cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices). —
[
  • 60 cases
  • , 153 controls
]
— European — PHB —
PSS000865 All individuals had hepatitis B. Cases included individuals cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices). —
[
  • 233 cases
  • , 428 controls
]
— European — PHB —
PSS000866 Cases included individuals with cirrhosis, biopsy confirmed cirrhosis and/or cirrhosis ascertained through ICD codes:Hospitalization or death due to physician diagnosed cirrhosis: K70.2 (alcoholic fibrosis and sclerosis of the liver), K70.3 (alcoholic cirrhosis), K70.4 (alcoholic hepatic failure), K74.0 (hepatic fibrosis), K74.1 (hepatic sclerosis), K74.2 (hepatic fibrosis with hepatic sclerosis), K74.6 (other and unspecific cirrhosis of liver), K76.6 (portal hypertension), or I85 (esophageal varices). —
[
  • 67 cases
  • , 1,375 controls
]
— African unspecified — PHB —
PSS008886 — — 3,837 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008887 — — 3,912 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008888 — — 3,852 individuals — African unspecified Nigeria (West Africa) 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 —
PSS000583 Case inclusion ICD codes: ICD9=571.5, ICD9=571.8, ICD9=571.9, ICD10=K75.81, ICD10=K76.0, ICD10=K76.9 —
[
  • 1,106 cases
  • , 8,571 controls
]
,
42.6 % Male samples
— European — eMERGE —
PSS000584 Controls are cases with Nonalcoholic fatty liver disease activity score <5 and cases are those with a score >5. Case inclusion ICD codes: ICD9=571.5, ICD9=571.8, ICD9=571.9, ICD10=K75.81, ICD10=K76.0, ICD10=K76.9 —
[
  • 79 cases
  • , 156 controls
]
— European — eMERGE —
PSS012276 — —
[
  • 2,681 cases
  • , 445,964 controls
]
,
45.6 % Male samples
Median = 58.0 years
Range = [45.0, 71.0] years
European — UKB —
PSS008437 — — 1,185 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008438 — — 1,197 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008439 — — 1,170 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS011182 — — 381,825 individuals — European — UKB —
PSS013257 571.5,K74.0, K74.6 —
[
  • 478 cases
  • , 15,699 controls
]
,
44.9 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013258 571.5,K74.0, K74.6 —
[
  • 478 cases
  • , 15,699 controls
]
,
44.9 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013259 571.5,K74.0, K74.6 —
[
  • 478 cases
  • , 15,699 controls
]
,
44.9 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013260 571.5,K74.0, K74.6 —
[
  • 478 cases
  • , 15,699 controls
]
,
44.9 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013261 571.5,K74.0, K74.6 —
[
  • 478 cases
  • , 15,699 controls
]
,
44.9 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013262 571.5, 571.8, 571.9,K74.0, K74.1, K74.2, K74.6, K75.81, K76.0, K76.8 —
[
  • 1,549 cases
  • , 15,699 controls
]
,
45.36 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013263 571.5, 571.8, 571.9,K74.0, K74.1, K74.2, K74.6, K75.81, K76.0, K76.8 —
[
  • 1,549 cases
  • , 15,699 controls
]
,
45.36 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013264 571.5, 571.8, 571.9,K74.0, K74.1, K74.2, K74.6, K75.81, K76.0, K76.8 —
[
  • 1,549 cases
  • , 15,699 controls
]
,
45.36 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013265 571.5, 571.8, 571.9,K74.0, K74.1, K74.2, K74.6, K75.81, K76.0, K76.8 —
[
  • 1,549 cases
  • , 15,699 controls
]
,
45.36 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013266 571.5, 571.8, 571.9,K74.0, K74.1, K74.2, K74.6, K75.81, K76.0, K76.8 —
[
  • 1,549 cases
  • , 15,699 controls
]
,
45.36 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013267 571, 572,K70.4, K71.11, K72, K74.0, K74.1, K74.2, K74.3, K74.4, K74.5, K74.6, K75.0, K75.1, K75.81, K76.0, K76.6, K76.7, K76.8 —
[
  • 3,031 cases
  • , 15,699 controls
]
,
45.81 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013268 571, 572,K70.4, K71.11, K72, K74.0, K74.1, K74.2, K74.3, K74.4, K74.5, K74.6, K75.0, K75.1, K75.81, K76.0, K76.6, K76.7, K76.8 —
[
  • 3,031 cases
  • , 15,699 controls
]
,
45.81 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013269 571, 572,K70.4, K71.11, K72, K74.0, K74.1, K74.2, K74.3, K74.4, K74.5, K74.6, K75.0, K75.1, K75.81, K76.0, K76.6, K76.7, K76.8 —
[
  • 3,031 cases
  • , 15,699 controls
]
,
45.81 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013270 571, 572,K70.4, K71.11, K72, K74.0, K74.1, K74.2, K74.3, K74.4, K74.5, K74.6, K75.0, K75.1, K75.81, K76.0, K76.6, K76.7, K76.8 —
[
  • 3,031 cases
  • , 15,699 controls
]
,
45.81 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013271 571, 572,K70.4, K71.11, K72, K74.0, K74.1, K74.2, K74.3, K74.4, K74.5, K74.6, K75.0, K75.1, K75.81, K76.0, K76.6, K76.7, K76.8 —
[
  • 3,031 cases
  • , 15,699 controls
]
,
45.81 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS011364 — — 56,192 individuals — European — UKB —
PSS013277 570, 573, 782.4, 789.1, 790.4, 790.5, 794.8, 996.82, V42.7,K71.1, K71.5, K72.00, K72.01, K76, K77, R16.0, R16.2, R17, R74, R94.5, T86.4, Z94.4 —
[
  • 1,991 cases
  • , 15,699 controls
]
,
45.14 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013278 570, 573, 782.4, 789.1, 790.4, 790.5, 794.8, 996.82, V42.7,K71.1, K71.5, K72.00, K72.01, K76, K77, R16.0, R16.2, R17, R74, R94.5, T86.4, Z94.4 —
[
  • 1,991 cases
  • , 15,699 controls
]
,
45.14 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013279 570, 573, 782.4, 789.1, 790.4, 790.5, 794.8, 996.82, V42.7,K71.1, K71.5, K72.00, K72.01, K76, K77, R16.0, R16.2, R17, R74, R94.5, T86.4, Z94.4 —
[
  • 1,991 cases
  • , 15,699 controls
]
,
45.14 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013280 570, 573, 782.4, 789.1, 790.4, 790.5, 794.8, 996.82, V42.7,K71.1, K71.5, K72.00, K72.01, K76, K77, R16.0, R16.2, R17, R74, R94.5, T86.4, Z94.4 —
[
  • 1,991 cases
  • , 15,699 controls
]
,
45.14 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013281 570, 573, 782.4, 789.1, 790.4, 790.5, 794.8, 996.82, V42.7,K71.1, K71.5, K72.00, K72.01, K76, K77, R16.0, R16.2, R17, R74, R94.5, T86.4, Z94.4 —
[
  • 1,991 cases
  • , 15,699 controls
]
,
45.14 % 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 —
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 —
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 —
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 —
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 —
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 —
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 —
PSS007998 — — 1,783 individuals — East Asian China (East Asia) UKB —
PSS007999 — — 1,806 individuals — East Asian China (East Asia) UKB —
PSS008000 — — 1,775 individuals — East Asian China (East Asia) UKB —
PSS012321 070.2, 070.3,B16, B18.0, B18.1, B19.1 —
[
  • 1,504 cases
  • , 14,911 controls
]
,
46.13 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012322 070.2, 070.3,B16, B18.0, B18.1, B19.1 —
[
  • 1,504 cases
  • , 14,911 controls
]
,
46.13 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012323 070.2, 070.3,B16, B18.0, B18.1, B19.1 —
[
  • 1,504 cases
  • , 14,911 controls
]
,
46.13 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012324 070.2, 070.3,B16, B18.0, B18.1, B19.1 —
[
  • 1,504 cases
  • , 14,911 controls
]
,
46.13 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012325 070.2, 070.3,B16, B18.0, B18.1, B19.1 —
[
  • 1,504 cases
  • , 14,911 controls
]
,
46.13 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012326 070.2, 070.3,B16, B18.0, B18.1, B19.1 —
[
  • 1,504 cases
  • , 14,911 controls
]
,
46.13 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012337 070, 571.4, 573.1, 573.2, 573.3,B15.0, B15.9, B16, B17.0, B17.1, B17.2, B17.8, B17.9, B18.0, B18.1, B18.2, B18.8, B18.9, B19, B25.1, K71.0, K71.10, K71.11, K71.2, K71.3, K71.4, K71.5, K71.6, K71.7, K71.8, K71.9, K73, K75.2, K75.3, K75.4, K75.89, K75.9, K76.4 —
[
  • 3,481 cases
  • , 14,911 controls
]
,
46.26 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012338 070, 571.4, 573.1, 573.2, 573.3,B15.0, B15.9, B16, B17.0, B17.1, B17.2, B17.8, B17.9, B18.0, B18.1, B18.2, B18.8, B18.9, B19, B25.1, K71.0, K71.10, K71.11, K71.2, K71.3, K71.4, K71.5, K71.6, K71.7, K71.8, K71.9, K73, K75.2, K75.3, K75.4, K75.89, K75.9, K76.4 —
[
  • 3,481 cases
  • , 14,911 controls
]
,
46.26 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012339 070, 571.4, 573.1, 573.2, 573.3,B15.0, B15.9, B16, B17.0, B17.1, B17.2, B17.8, B17.9, B18.0, B18.1, B18.2, B18.8, B18.9, B19, B25.1, K71.0, K71.10, K71.11, K71.2, K71.3, K71.4, K71.5, K71.6, K71.7, K71.8, K71.9, K73, K75.2, K75.3, K75.4, K75.89, K75.9, K76.4 —
[
  • 3,481 cases
  • , 14,911 controls
]
,
46.26 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012340 070, 571.4, 573.1, 573.2, 573.3,B15.0, B15.9, B16, B17.0, B17.1, B17.2, B17.8, B17.9, B18.0, B18.1, B18.2, B18.8, B18.9, B19, B25.1, K71.0, K71.10, K71.11, K71.2, K71.3, K71.4, K71.5, K71.6, K71.7, K71.8, K71.9, K73, K75.2, K75.3, K75.4, K75.89, K75.9, K76.4 —
[
  • 3,481 cases
  • , 14,911 controls
]
,
46.26 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012341 070, 571.4, 573.1, 573.2, 573.3,B15.0, B15.9, B16, B17.0, B17.1, B17.2, B17.8, B17.9, B18.0, B18.1, B18.2, B18.8, B18.9, B19, B25.1, K71.0, K71.10, K71.11, K71.2, K71.3, K71.4, K71.5, K71.6, K71.7, K71.8, K71.9, K73, K75.2, K75.3, K75.4, K75.89, K75.9, K76.4 —
[
  • 3,481 cases
  • , 14,911 controls
]
,
46.26 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS007667 — —
[
  • 917 cases
  • , 473 controls
]
,
72.3 % Male samples
— European — GenomALC —
PSS007668 — —
[
  • 1,162 cases
  • , 604 controls
]
,
62.06 % Male samples
— European — GenomALC —
PSS007669 — —
[
  • 594 cases
  • , 6,304 controls
]
,
77.02 % Male samples
— European — UKB —
PSS009109 — — 4,060 individuals — European Poland (NE Europe) UKB —
PSS009110 — — 4,121 individuals — European Poland (NE Europe) UKB —
PSS009111 — — 3,998 individuals — European Poland (NE Europe) UKB —
PSS001094 Cases were individuals with liver disease. Of the 1,699 cases, 1,473 had fatty liver disease (FLD) whilst 226 had hepatocellular carcinoma (HCC). Of the 1,473 individuals with FLD, 297 had severe fibrosis and were therefore classified as being within stage 3-4 of FLD. Severe fibrosis was defined in the presence of histological fibrosis F3-F4 (when liver biopsy was available) or in presence of clinical, endoscopic or radiological signs of portal hypertension or cirrhosis, or liver stiffness ≥8.4 kPa evaluated by Fibroscan. Diagnosis of HCC was based on EASL-EORTC Clinical Practice Guidelines. —
[
  • 1,699 cases
  • , 865 controls
]
,
57.76 % Male samples
— European — NR Cases were obtained from the Nonalcoholic Fatty Liver Disease (NAFLD) Case-Control Cross-Sectional Cohort.
PSS001095 All individuals had liver disease. Of the 158 cases, 72 had cirrhosis whilst 84 had hepatocellular cancer. Diagnosis of HCC was based on EASL-EORTC Clinical Practice Guidelines —
[
  • 158 cases
  • , 271 controls
]
,
43.59 % Male samples
— Not reported — NR —
PSS001096 Cases were individuals with liver disease. Of the 1,628 cases, 1,426 individuals had cirrhosis whilst 202 had hepatocellular cancer (HCC). Cirrhosis was defined as ICD-10 codes I85.0, I85.9, K70.3, K70.4, K72.1, K74.1, K74.2, K74.6, K76.6, K76.7 using hospitalization records (data-field 41270). HCC was defined by combining International Classification of Diseases, Tenth Revision (ICD-10) code C22.0 from both UK cancer registry (data-field 40006), and hospitalization records (data-field 41270). —
[
  • 1,628 cases
  • , 362,420 controls
]
,
46.22 % Male samples
— European — UKB —
PSS001097 Cases were individuals with hepatocellular cancer (HCC). HCC was defined by combining International Classification of Diseases, Tenth Revision (ICD-10) code C22.0 from both UK cancer registry (data-field 40006), and hospitalization records (data-field 41270). —
[
  • 197 cases
  • , 356,746 controls
]
— European — UKB —
PSS001098 All individuals had a body mass index ≥30. Cases were individuals with hepatocellular cancer (HCC). HCC was defined by combining International Classification of Diseases, Tenth Revision (ICD-10) code C22.0 from both UK cancer registry (data-field 40006), and hospitalization records (data-field 41270). —
[
  • 87 cases
  • , 85,803 controls
]
— European — UKB —
PSS001101 All individuals had no diagnosis of cirrhosis. Cases were individuals with hepatocellular cancer (HCC). HCC was defined by combining International Classification of Diseases, Tenth Revision (ICD-10) code C22.0 from both UK cancer registry (data-field 40006), and hospitalization records (data-field 41270). —
[
  • 95 cases
  • , 355,355 controls
]
— European — UKB —
PSS001103 All individuals had type 2 diabetes (T2D). Diabetes was defined as individuals having either of following criteria: 1) self-reported type 2 or unspecified diabetes (codes 1220 and 1223 in data-field 20002); 2) ICD10 diagnoses codes E11 and E14 (data-field 41270); 3) insulin treatment or use of oral glucose lowering drugs (data-fields 6153, 6177 and 20003); 4) serum glucose level ≥11.1 mmol/L (200mg/dL); 5) HbA1c ≥ 48 mmol/mol (6.5%). Cases were individuals with hepatocellular cancer (HCC). HCC was defined by combining International Classification of Diseases, Tenth Revision (ICD-10) code C22.0 from both UK cancer registry (data-field 40006), and hospitalization records (data-field 41270). —
[
  • 80 cases
  • , 24,959 controls
]
— European — UKB —
PSS011674 — —
[
  • 56 cases
  • , 5,153 controls
]
— European
(Finnish)
— Health2000 —
PSS011418 ICD10: K70.2, K70.3, K70.4, K74.0, K74.1, K74.2, K74.6, K76.6, or I85 —
[
  • 12,910 cases
  • , 1,141,085 controls
]
— European — 7 cohorts
  • AllofUs
  • ,CHB
  • ,EB
  • ,FinnGen
  • ,IHCS
  • ,MyCode
  • ,deCODE
—
PSS004134 — —
[
  • 93 cases
  • , 6,404 controls
]
— African unspecified — UKB —
PSS004135 — —
[
  • 37 cases
  • , 1,667 controls
]
— East Asian — UKB —
PSS004136 — —
[
  • 460 cases
  • , 24,445 controls
]
— European non-white British ancestry UKB —
PSS004137 — —
[
  • 193 cases
  • , 7,638 controls
]
— South Asian — UKB —
PSS004138 — —
[
  • 1,158 cases
  • , 66,267 controls
]
— European white British ancestry UKB Testing cohort (heldout set)
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)
PSS012402 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012403 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012404 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012405 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012406 155.0, V10.07,C22.0, C22.2, C22.3, C22.4, C22.7, C22.8, Z85.05 —
[
  • 390 cases
  • , 15,322 controls
]
,
43.78 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012407 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012408 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012409 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012410 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012411 155, 230.8, V10.07,C22, D01.5, Z85.05 —
[
  • 417 cases
  • , 15,322 controls
]
,
43.8 % Male samples
— East Asian
(Han Chinese)
— TPMI —