Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs778543124
rs778543124
XPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs2516839
rs2516839
USF1
0.010 GeneticVariation BEFREE However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning. 29598907

2018
dbSNP: rs748787734
rs748787734
TUBB4A
C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
dbSNP: rs121918097
rs121918097
TTR
0.010 GeneticVariation BEFREE Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. 27238058

2016
dbSNP: rs181109321
rs181109321
TTPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs752298579
rs752298579
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs781934508
rs781934508
SURF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs782316919
rs782316919
SURF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555475794
rs1555475794
STUB1 ; JMJD8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1217391623
rs1217391623
SPG7
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918358
rs121918358
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs141659620
rs141659620
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs61755320
rs61755320
SPG7
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs72547551
rs72547551
SPG7
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs748309520
rs748309520
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs752989523
rs752989523
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs768823392
rs768823392
SPG7
A 0.700 CausalMutation CLINVAR

dbSNP: rs879253797
rs879253797
SPG7
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs730882198
rs730882198
SPART
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs771744744
rs771744744
SMUG1
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322

2010
dbSNP: rs1553878395
rs1553878395
SEPSECS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs387906686
rs387906686
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs869312880
rs869312880
REEP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555565492
rs1555565492
RAI1
TG 0.700 CausalMutation CLINVAR