Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1399213398
rs1399213398
SPART
0.700 GeneticVariation UNIPROT Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. 27539578

2017
dbSNP: rs1399213398
rs1399213398
SPART
0.700 GeneticVariation UNIPROT Novel SPG20 mutation in an extended family with Troyer syndrome. 28875386

2017
dbSNP: rs775736341
rs775736341
SPART
C 0.700 CausalMutation CLINVAR Developmental and degenerative features in a complicated spastic paraplegia. 20437587

2010
dbSNP: rs1399213398
rs1399213398
SPART
0.700 GeneticVariation UNIPROT SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148

2002
dbSNP: rs1060499524
rs1060499524
SPART
G 0.700 CausalMutation CLINVAR

dbSNP: rs748835312
rs748835312
SPART
A 0.700 CausalMutation CLINVAR