Gene: SPAST ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553316799
rs1553316799
SPAST
C 0.700 CausalMutation CLINVAR Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
dbSNP: rs1558337180
rs1558337180
SPAST
C 0.700 CausalMutation CLINVAR Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
dbSNP: rs1558339948
rs1558339948
SPAST
T 0.700 GeneticVariation CLINVAR Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
dbSNP: rs1558337180
rs1558337180
SPAST
C 0.700 CausalMutation CLINVAR Clinical and genetic study of hereditary spastic paraplegia in Canada. 27957547

2017
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366

2016
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366

2016
dbSNP: rs878854991
rs878854991
SPAST
A 0.800 CausalMutation CLINVAR A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 27260292

2016
dbSNP: rs786204057
rs786204057
SPAST
A 0.700 CausalMutation CLINVAR A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 27260292

2016
dbSNP: rs121908518
rs121908518
SPAST
T 0.800 CausalMutation CLINVAR Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 27084228

2016
dbSNP: rs570685843
rs570685843
SPAST
T 0.700 GeneticVariation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015
dbSNP: rs864622162
rs864622162
SPAST
T 0.800 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
dbSNP: rs1558339948
rs1558339948
SPAST
T 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015
dbSNP: rs1553399493
rs1553399493
SPAST
A 0.700 CausalMutation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Multimodal MRI-based study in patients with SPG4 mutations. 25658484

2015
dbSNP: rs1553314978
rs1553314978
SPAST
A 0.700 CausalMutation CLINVAR Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China. 25341883

2014
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380

2014
dbSNP: rs121908509
rs121908509
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908510
rs121908510
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908511
rs121908511
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908512
rs121908512
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908513
rs121908513
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908514
rs121908514
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908516
rs121908516
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs121908518
rs121908518
SPAST
0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014