Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553316799
rs1553316799
SPAST
C 0.700 CausalMutation CLINVAR Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
dbSNP: rs1553316799
rs1553316799
SPAST
C 0.700 CausalMutation CLINVAR Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. 21546041

2011
dbSNP: rs1553316799
rs1553316799
SPAST
C 0.700 CausalMutation CLINVAR Clinical features of hereditary spastic paraplegia due to spastin mutation. 16832076

2006