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: rs757062222
rs757062222
SACS
0.010 GeneticVariation BEFREE All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS gene establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 23785480

2013
dbSNP: rs757894912
rs757894912
SACS
0.010 GeneticVariation BEFREE Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 27871429

2016
dbSNP: rs137853016
rs137853016
SACS
G 0.800 CausalMutation CLINVAR

dbSNP: rs137853017
rs137853017
SACS
G 0.800 CausalMutation CLINVAR

dbSNP: rs137853018
rs137853018
SACS
G 0.800 CausalMutation CLINVAR

dbSNP: rs137853019
rs137853019
SACS
G 0.800 CausalMutation CLINVAR

dbSNP: rs140551762
rs140551762
SACS
T 0.800 GeneticVariation CLINVAR

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
dbSNP: rs1028098148
rs1028098148
SACS
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516222
rs1057516222
SACS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516224
rs1057516224
SACS
A 0.700 GeneticVariation CLINVAR Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. 22751902

2012
dbSNP: rs1057516285
rs1057516285
SACS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516294
rs1057516294
SACS
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516295
rs1057516295
SACS
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516347
rs1057516347
SACS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516365
rs1057516365
SACS
T 0.700 GeneticVariation CLINVAR Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. 22816526

2013
dbSNP: rs1057516398
rs1057516398
SACS
A 0.700 GeneticVariation CLINVAR A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 18604465

2008
dbSNP: rs1057516406
rs1057516406
SACS
TAA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516438
rs1057516438
SACS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516464
rs1057516464
SACS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516543
rs1057516543
SACS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516551
rs1057516551
SACS
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516554
rs1057516554
SACS
C 0.700 GeneticVariation CLINVAR