Gene: SACS ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1160357920
rs1160357920
SACS
T 0.700 GeneticVariation CLINVAR Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy. 28641335

2017
dbSNP: rs281865117
rs281865117
SACS
T 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. 28658401

2017
dbSNP: rs565203731
rs565203731
SACS
A 0.700 CausalMutation CLINVAR Comorbidity in the Tunisian population. 26010040

2016
dbSNP: rs1057517123
rs1057517123
SACS
GT 0.700 GeneticVariation CLINVAR High-Throughput Screening for Ligands of the HEPN Domain of Sacsin. 26366743

2015
dbSNP: rs1214399996
rs1214399996
SACS
G 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 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 26288984

2015
dbSNP: rs766711286
rs766711286
SACS
A 0.700 CausalMutation CLINVAR Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 26068213

2015
dbSNP: rs745961541
rs745961541
SACS
G 0.700 GeneticVariation CLINVAR Cerebellum and neuropsychiatric disorders: insights from ARSACS. 24318559

2014
dbSNP: rs751568153
rs751568153
SACS
A 0.700 GeneticVariation CLINVAR Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature. 24384335

2014
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: rs1057517311
rs1057517311
SACS
A 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 23497566

2013
dbSNP: rs1160357920
rs1160357920
SACS
T 0.700 GeneticVariation CLINVAR Diversity of ARSACS mutations in French-Canadians. 23250129

2013
dbSNP: rs1175545518
rs1175545518
SACS
A 0.700 CausalMutation CLINVAR Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. 22816526

2013
dbSNP: rs141315518
rs141315518
SACS
A 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: rs1485209013
rs1485209013
SACS
A 0.700 CausalMutation CLINVAR Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. 22816526

2013
dbSNP: rs1485209013
rs1485209013
SACS
A 0.700 CausalMutation CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630

2013
dbSNP: rs201690040
rs201690040
SACS
A 0.700 GeneticVariation CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630

2013
dbSNP: rs202199411
rs202199411
SACS
A 0.700 GeneticVariation CLINVAR Diversity of ARSACS mutations in French-Canadians. 23250129

2013