rs61755320, SPG7

N. diseases: 41
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ataxia
CUI: C0004134
Disease: Ataxia
0.720 GeneticVariation BEFREE Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, <i>p</i> < 0.05) and showed ataxia at onset (<i>p</i> < 0.05). 31068484 2019
Ataxia
CUI: C0004134
Disease: Ataxia
0.720 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
Ataxia
CUI: C0004134
Disease: Ataxia
0.720 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016