Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1175545518
rs1175545518
SACS
A 0.700 CausalMutation CLINVAR Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. 22816526

2013
dbSNP: rs1175545518
rs1175545518
SACS
A 0.700 CausalMutation CLINVAR ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152

2008