Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553603732
rs1553603732
DES
T 0.700 CausalMutation CLINVAR

dbSNP: rs781908532
rs781908532
SLC25A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.010 GeneticVariation BEFREE Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene. 19813183

2010
dbSNP: rs121912445
rs121912445
SOD1
0.010 GeneticVariation BEFREE The patients with I104F showed wide ranges of age at onset and duration with ophthalmoparesis and sensory involvement in one patient. 8815157

1996