Variant: rs769333468 

    present in Gene: VPS33B;LOC105370970
    present in Chromosome: 15
    Position on Chromosome: 91009799
    Alleles of this Variant: A/T

rs769333468 in VPS33B;LOC105370970 gene and Arthrogryposis, renal dysfunction, and cholestasis 1 PMID 19274792 2009 Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

PMID 24917129 2015 Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

PMID 21851503 2011 Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.

PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

PMID 24782640 2014 ARC syndrome with high GGT cholestasis caused by VPS33B mutations.