Variant: rs104894518 

    present in Gene: HSD3B7
    present in Chromosome: 16
    Position on Chromosome: 30986612
    Alleles of this Variant: G/A

rs104894518 in HSD3B7 gene and Bile acid synthesis defect, congenital, 1 PMID 11067870 2000 The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.

PMID 12679481 2003 Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.