Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1006060877
rs1006060877
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104894490
rs104894490
NIPA1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518697
rs1057518697
KDM5C
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518760
rs1057518760
KIF1A
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518880
rs1057518880
SPAST
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499939
rs1060499939
SPAST
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499939
rs1060499939
SPAST
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502224
rs1060502224
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1060503431
rs1060503431
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683

2017
dbSNP: rs1156566314
rs1156566314
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1160357920
rs1160357920
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Diversity of ARSACS mutations in French-Canadians. 23250129

2013
dbSNP: rs116171274
rs116171274
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 24117163

2014
dbSNP: rs116171274
rs116171274
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641

2013
dbSNP: rs116171274
rs116171274
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 21541746

2012
dbSNP: rs116171274
rs116171274
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769

2011
dbSNP: rs116171274
rs116171274
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420

2009
dbSNP: rs119476046
rs119476046
ATL1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121434443
rs121434443
KIF5A
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121908611
rs121908611
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908613
rs121908613
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918262
rs121918262
REEP1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1259615333
rs1259615333
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. 21745802

2011
dbSNP: rs1259615333
rs1259615333
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. 19892370

2010