Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750663981
rs750663981
SPG11
AG 0.700 CausalMutation CLINVAR

dbSNP: rs786200949
rs786200949
KIF1A
A 0.700 CausalMutation CLINVAR

dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR A founder mutation p.H701P identified as a major cause of SPG7 in Norway. 26756429

2016
dbSNP: rs1313275799
rs1313275799
AP4E1
0.010 GeneticVariation BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171

2013
dbSNP: rs61755320
rs61755320
SPG7
0.720 GeneticVariation BEFREE Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. 26506339

2015
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769

2011
dbSNP: rs878854991
rs878854991
SPAST
0.010 GeneticVariation BEFREE An extensive genetic analysis identified a specific class of heterozygous germline mutation in SPAST, p.(Arg499His), which is responsible for hereditary spastic paraplegia with infantile onset. 31698101

2019
dbSNP: rs66468541
rs66468541
HSPD1
0.020 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388

2019
dbSNP: rs1265011107
rs1265011107
WDTC1
0.010 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388

2019
dbSNP: rs537742207
rs537742207
MDH2
0.010 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388

2019
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235

2013
dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235

2013
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene. 29057857

2017
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Clinical and genetic study of hereditary spastic paraplegia in Canada. 27957547

2017
dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR Clinical and genetic study of hereditary spastic paraplegia in Canada. 27957547

2017
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Expanded phenotype in a patient with spastic paraplegia 7. 29026558

2017
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691

2010
dbSNP: rs116171274
rs116171274
CYP7B1
0.710 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). 27879216

2016
dbSNP: rs121908613
rs121908613
CYP7B1
0.710 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5). 27879220

2016
dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. 18563470

2008
dbSNP: rs587777132
rs587777132
ALS2
0.010 GeneticVariation BEFREE Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. 24315819

2014
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.710 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017
dbSNP: rs121908613
rs121908613
CYP7B1
T 0.710 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017