Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755320
rs61755320
T 0.720 GeneticVariation CLINVAR SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692

2013

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

2013

dbSNP: rs61755320
rs61755320
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: rs61755320
rs61755320
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
T 0.720 GeneticVariation CLINVAR Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 23065789

2012

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

2010

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

2017

dbSNP: rs61755320
rs61755320
0.720 GeneticVariation BEFREE The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia. 30044948

2018

dbSNP: rs61755320
rs61755320
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: rs61755320
rs61755320
T 0.720 GeneticVariation CLINVAR The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. 23269439

2013

dbSNP: rs61755320
rs61755320
T 0.720 GeneticVariation CLINVAR Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. 28362824

2017

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

2017

dbSNP: rs61755320
rs61755320
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
T 0.720 GeneticVariation CLINVAR Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 16534102

2006

dbSNP: rs61755320
rs61755320
T 0.720 GeneticVariation CLINVAR Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. 18799786

2008

dbSNP: rs116171274
rs116171274
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
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: rs1266102026
rs1266102026
G 0.700 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: rs1555177824
rs1555177824
T 0.700 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: rs1555177831
rs1555177831
C 0.700 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: rs763958615
rs763958615
T 0.700 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: rs66468541
rs66468541
0.020 GeneticVariation BEFREE We have previously reported the association of a mutation (c.292G > A/p.V98I) in the human HSPD1 gene that encodes the mitochondrial Hsp60 chaperonin with a dominantly inherited form of hereditary spastic paraplegia. 18400758

2008

dbSNP: rs66468541
rs66468541
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
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: rs1313275799
rs1313275799
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