Variant: rs11568372 

    present in Gene: ABCB11
    present in Chromosome: 2
    Position on Chromosome: 168990819
    Alleles of this Variant: T/C

rs11568372 in ABCB11 gene and Progressive intrahepatic cholestasis (disorder) PMID 17855769 2007 Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.

PMID 18395098 2008 Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

PMID 9806540 1998 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.