Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517311
rs1057517311
SACS
A 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 23497566

2013
dbSNP: rs1057517311
rs1057517311
SACS
A 0.700 CausalMutation CLINVAR ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152

2008