Variant: rs368182654 

    present in Gene: TOE1
    present in Chromosome: 1
    Position on Chromosome: 45342847
    Alleles of this Variant: C/T

rs368182654 in TOE1 gene and Congenital pontocerebellar hypoplasia type 7 PMID 28092684 2017 Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.