Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs565203731
rs565203731
SACS
A 0.700 CausalMutation CLINVAR Comorbidity in the Tunisian population. 26010040

2016
dbSNP: rs565203731
rs565203731
SACS
A 0.700 CausalMutation CLINVAR New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 26288984

2015
dbSNP: rs565203731
rs565203731
SACS
A 0.700 CausalMutation CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630

2013
dbSNP: rs565203731
rs565203731
SACS
A 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. 21450511

2011
dbSNP: rs565203731
rs565203731
SACS
A 0.700 CausalMutation CLINVAR Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 18569450

2008
dbSNP: rs565203731
rs565203731
SACS
A 0.700 GeneticVariation CLINVAR Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 18569450

2008