Disease: Cerebellar Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs72547551
rs72547551
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs748309520
rs748309520
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs752989523
rs752989523
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs879253797
rs879253797
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs879253798
rs879253798
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		G 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		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
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		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