Variant: rs1442840881 

    present in Gene: VPS33B
    present in Chromosome: 15
    Position on Chromosome: 91006391
    Alleles of this Variant: -/G

rs1442840881 in VPS33B gene and Multiple congenital anomalies PMID 16896922 2006 Clinical and molecular genetic features of ARC syndrome.

PMID 15052268 2004 Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

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

PMID 22753090 2012 Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

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