Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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: rs1377512692
rs1377512692
APP
0.010 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: rs372702043
rs372702043
APP
0.010 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: rs890815306
rs890815306
APP
0.010 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
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 Expanded phenotype in a patient with spastic paraplegia 7. 29026558

2017
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
dbSNP: rs104894490
rs104894490
NIPA1
A 0.700 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: rs1266102026
rs1266102026
REEP1
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: rs1553316816
rs1553316816
SPAST
A 0.700 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: rs1554524697
rs1554524697
CYP7B1
CA 0.700 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: rs1555177629
rs1555177629
KIF5A
T 0.700 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: rs1555177824
rs1555177824
KIF5A
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
KIF5A
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: rs1555394376
rs1555394376
ZFYVE26
CA 0.700 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: rs200133991
rs200133991
C19orf12
T 0.700 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: rs312262720
rs312262720
SPG11
C 0.700 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: rs387907288
rs387907288
KIF5A
A 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017