Gene: SPG7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141659620
rs141659620
SPG7
A 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: rs879253797
rs879253797
SPG7
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs879253798
rs879253798
SPG7
G 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs61755320
rs61755320
SPG7
0.020 GeneticVariation BEFREE This is the largest <i>SPG7</i> cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant. 31068484

2019
dbSNP: rs61755320
rs61755320
SPG7
0.020 GeneticVariation BEFREE The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. 30098094

2019