Variant: rs369860506 

    present in Gene: ABCB11
    present in Chromosome: 2
    Position on Chromosome: 168973734
    Alleles of this Variant: T/C

rs369860506 in ABCB11 gene and Cholestasis, Progressive Familial Intrahepatic, 2 PMID 9806540 1998 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

PMID 24969679 2014 Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

PMID 10579978 1999 Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

PMID 11815775 2002 FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.