Variant: rs371848318 

    present in Gene: MUTYH;TOE1
    present in Chromosome: 1
    Position on Chromosome: 45341543
    Alleles of this Variant: G/A

rs371848318 in MUTYH;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.