Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764647588
rs764647588
SPG11
0.700 GeneticVariation UNIPROT Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339

2016
dbSNP: rs764647588
rs764647588
SPG11
0.700 GeneticVariation UNIPROT Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 19105190

2009
dbSNP: rs764647588
rs764647588
SPG11
0.700 GeneticVariation UNIPROT Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. 18079167

2008
dbSNP: rs764647588
rs764647588
SPG11
0.700 GeneticVariation UNIPROT Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 17322883

2007