Variant: rs121908935 

    present in Gene: ABCB11
    present in Chromosome: 2
    Position on Chromosome: 168976590
    Alleles of this Variant: C/G

rs121908935 in ABCB11 gene and Cholestasis, benign recurrent intrahepatic 2 PMID 15300568 2004 Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.

PMID 16039748 2005 The intron 4 (+3)A > C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively.