Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908513
rs121908513
SPAST
0.020 GeneticVariation BEFREE Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia. 30006150

2018
dbSNP: rs121908513
rs121908513
SPAST
0.020 GeneticVariation BEFREE A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. 12202986

2002