Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204628
rs786204628
SACS
G 0.700 GeneticVariation CLINVAR Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 21507954

2011
dbSNP: rs786204628
rs786204628
SACS
G 0.700 GeneticVariation CLINVAR The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. 19208651

2009
dbSNP: rs786204628
rs786204628
SACS
G 0.700 GeneticVariation CLINVAR A novel SACS gene mutation in a Tunisian family. 19529988

2009