Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908515
rs121908515
SPAST
0.030 GeneticVariation BEFREE Collectively, our results suggest that S44L in association with c.1687G>A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest HSP. 18190593

2008
dbSNP: rs121908515
rs121908515
SPAST
0.030 GeneticVariation BEFREE We confirm these associations for p.S44L but do not detect two other variants (p.E43Q; p.P45Q) in HSP patients and controls. 17916079

2007
dbSNP: rs121908515
rs121908515
SPAST
0.030 GeneticVariation BEFREE Our identification of S44L and P45Q as modifiers of the HSP phenotype suggests a role for spastin phosphorylation by Cdks in the neurodegeneration of the most-common form of HSP. 15248095

2004