Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745907077
rs745907077
SACS
0.710 GeneticVariation BEFREE The Sr1 structure reveals that ARSACS-causing missense mutations (R272H, R272C, and T201K) disrupt protein folding, most likely leading to sacsin degradation. 29945973

2018
dbSNP: rs745907077
rs745907077
SACS
T 0.710 GeneticVariation CLINVAR New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 26288984

2015
dbSNP: rs745907077
rs745907077
SACS
T 0.710 GeneticVariation CLINVAR Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. 23338241

2013