Variant: rs515726137 

    present in Gene: LOC100505549;ATP8B1
    present in Chromosome: 18
    Position on Chromosome: 57669422
    Alleles of this Variant: C/A

rs515726137 in LOC100505549;ATP8B1 gene and Multiple congenital anomalies PMID 23060447 2012 Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.

PMID 25737299 2015 Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 19479804 2009 Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.

PMID 19918981 2010 Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

PMID 20852622 2010 Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.