Variant: rs1555789140 

    present in Gene: OVOL2;MGME1;SNX5
    present in Chromosome: 20
    Position on Chromosome: 17970217
    Alleles of this Variant: C/-

rs1555789140 in OVOL2;MGME1;SNX5 gene and Cerebellar atrophy PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

rs1555789140 in OVOL2;MGME1;SNX5 gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 11 PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

rs1555789140 in OVOL2;MGME1;SNX5 gene and Microcephaly (physical finding) PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

rs1555789140 in OVOL2;MGME1;SNX5 gene and Progressive cerebellar ataxia PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.