Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs558285072
rs558285072
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
A 0.700 CausalMutation CLINVAR Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 27544497

2016