Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs312262737
rs312262737
A 0.700 GeneticVariation CLINVAR Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339

2016

dbSNP: rs312262737
rs312262737
A 0.700 GeneticVariation CLINVAR Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. 20390432

2010

dbSNP: rs312262737
rs312262737
A 0.700 CausalMutation CLINVAR Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. 20390432

2010