Variant: rs113090017 

    present in Gene: NR1H4
    present in Chromosome: 12
    Position on Chromosome: 100532538
    Alleles of this Variant: C/A;G;T

rs113090017 in NR1H4 gene and Progressive intrahepatic cholestasis (disorder) PMID 26888176 2016 Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

PMID 21633855 2012 A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.