Variant: rs200594402 

    present in Gene: VPS53
    present in Chromosome: 17
    Position on Chromosome: 562543
    Alleles of this Variant: G/A

rs200594402 in VPS53 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 2E PMID 28567303 2016 Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.