Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113090017
rs113090017
NR1H4
T 0.700 CausalMutation CLINVAR Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. 26888176

2016
dbSNP: rs113090017
rs113090017
NR1H4
T 0.700 CausalMutation CLINVAR A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis. 21633855

2012