Variant: rs121918442 

    present in Gene: ABCB4
    present in Chromosome: 7
    Position on Chromosome: 87406293
    Alleles of this Variant: G/A;T

rs121918442 in ABCB4 gene and Low phospholipid-associated cholelithiasis PMID 22331132 2012 Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.

PMID 24723470 2014 Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.

PMID 11313316 2001 MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

PMID 12891548 2003 ABCB4 gene mutation-associated cholelithiasis in adults.

PMID 23533021 2013 Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

PMID 28012258 2017 Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).