Variant: rs139632595 

    present in Gene: EXOSC9
    present in Chromosome: 4
    Position on Chromosome: 121801465
    Alleles of this Variant: T/C

rs139632595 in EXOSC9 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 1D PMID 29727687 2018 Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.