Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909104
rs121909104
ATP8B1
0.800 GeneticVariation UNIPROT Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. 23197899

2012
dbSNP: rs121909104
rs121909104
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: rs121909104
rs121909104
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: rs121909104
rs121909104
ATP8B1
0.800 GeneticVariation UNIPROT Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 15239083

2004
dbSNP: rs121909104
rs121909104
ATP8B1
0.800 GeneticVariation UNIPROT A missense mutation in FIC1 is associated with greenland familial cholestasis. 11093741

2000
dbSNP: rs121909104
rs121909104
ATP8B1
0.800 GeneticVariation UNIPROT A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 9500542

1998
dbSNP: rs121909104
rs121909104
ATP8B1
A 0.800 CausalMutation CLINVAR