Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751568153
rs751568153
SACS
A 0.700 GeneticVariation CLINVAR Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature. 24384335

2014
dbSNP: rs751568153
rs751568153
SACS
A 0.700 GeneticVariation CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630

2013