Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1259615333
rs1259615333
A 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. 21745802

2011

dbSNP: rs1259615333
rs1259615333
A 0.700 CausalMutation CLINVAR Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. 19892370

2010