Disease: Paraparesis, Spastic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037771
Disease:
Paraparesis, Spastic 		0.710 GeneticVariation BEFREE Our results confirm the pathogenicity of Ala510Val, which was the most frequent mutation in our series (65%) and segregated at the homozygous state with spastic paraparesis in a large family with autosomal recessive inheritance. 23065789 2012
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037771
Disease:
Paraparesis, Spastic 		T 0.710 CausalMutation CLINVAR