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 We investigated the role of the I344K-SPAST in HSP to provide a therapeutic mechanism. 30006150

2018
dbSNP: rs121908513
rs121908513
SPAST
0.020 GeneticVariation BEFREE Clinical presentations of affected individuals carrying the I344K mutation were not different from those of pure AD-HSP with SPG4 mutations reported previously. 12202986

2002