Variant: rs148067486 

    present in Gene: TOE1;MUTYH
    present in Chromosome: 1
    Position on Chromosome: 45342058
    Alleles of this Variant: T/A

rs148067486 in TOE1;MUTYH 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.