Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72549398
rs72549398
ABCB11
0.010 GeneticVariation BEFREE The patient was found to be a compound heterozygote for the missense mutation c.3148C>T (p.Arg1050Cys) associated with benign recurrent intrahepatic cholestasis type 2 in the homozygous state and for the nonsense mutation c.3904G>T (p.Glu1302Ter) associated with progressive familial intrahepatic cholestasis type 2. 31015375

2019
dbSNP: rs1562945221
rs1562945221
ABCB4
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1562976061
rs1562976061
ABCB4
T 0.700 CausalMutation CLINVAR

dbSNP: rs375315619
rs375315619
ABCB4
C 0.700 CausalMutation CLINVAR

dbSNP: rs377160065
rs377160065
ABCB4
A 0.700 CausalMutation CLINVAR

dbSNP: rs2109505
rs2109505
ABCB4
0.010 GeneticVariation BEFREE Whereas rare mutations of this transporter were known to cause progressive familial intrahepatic cholestasis, the genome-wide association studies in Iceland find the common ABCB4 variant c.711A>T to be a general risk factor for elevated aminotransferases and higher impact variants to be potential determinants of early-onset gallstone disease, cholestasis of pregnancy, liver cirrhosis, and hepatobiliary cancer. 26410236

2015
dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation UNIPROT Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. 23197899

2012
dbSNP: rs111033609
rs111033609
ATP8B1
A 0.820 CausalMutation CLINVAR

dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation UNIPROT Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. 20038848

2010
dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation UNIPROT A missense mutation in FIC1 is associated with greenland familial cholestasis. 11093741

2000
dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation UNIPROT Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 15239083

2004
dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation BEFREE This study analyzed routine clinical practice and outcomes of children with Byler disease (defined by homozygous c.923G>T mutation in ATP8b1), who initially presented to Children's Hospital of Pittsburgh of UPMC between January 2007 and October 2014. 25825852

2015
dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation UNIPROT Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. 19731236

2009
dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation UNIPROT A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 9500542

1998
dbSNP: rs111033609
rs111033609
ATP8B1
A 0.820 GeneticVariation CLINVAR

dbSNP: rs111033609
rs111033609
ATP8B1
0.820 GeneticVariation BEFREE In this study we analyzed a panel of missense mutations causing PFIC1 (G308V, D554N, G1040R) or BRIC1 (D70N, I661T). 19731236

2009
dbSNP: rs121909099
rs121909099
ATP8B1
0.800 GeneticVariation UNIPROT Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. 20038848

2010
dbSNP: rs121909099
rs121909099
ATP8B1
0.800 GeneticVariation UNIPROT Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 15239083

2004
dbSNP: rs121909099
rs121909099
ATP8B1
0.800 GeneticVariation UNIPROT A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 9500542

1998
dbSNP: rs121909099
rs121909099
ATP8B1
0.800 GeneticVariation UNIPROT Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. 23197899

2012
dbSNP: rs121909099
rs121909099
ATP8B1
0.800 GeneticVariation UNIPROT Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. 19731236

2009
dbSNP: rs121909099
rs121909099
ATP8B1
0.800 GeneticVariation UNIPROT A missense mutation in FIC1 is associated with greenland familial cholestasis. 11093741

2000
dbSNP: rs121909099
rs121909099
ATP8B1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909101
rs121909101
ATP8B1
0.800 GeneticVariation UNIPROT Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 15239083

2004
dbSNP: rs121909101
rs121909101
ATP8B1
0.800 GeneticVariation UNIPROT Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. 20038848

2010