Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502224
rs1060502224
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		GA 0.700 CausalMutation CLINVAR

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: 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: rs200737038
rs200737038
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777222
rs587777222
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		C 0.700 CausalMutation CLINVAR Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. 24519355

2014
dbSNP: rs587777222
rs587777222
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		C 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: rs587777222
rs587777222
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		C 0.700 CausalMutation CLINVAR Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 21214876

2012
dbSNP: rs587777222
rs587777222
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		C 0.700 CausalMutation CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420

2009
dbSNP: rs72554620
rs72554620
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. 19812052

2010
dbSNP: rs72554620
rs72554620
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. 18252231

2008
dbSNP: rs72554620
rs72554620
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. 9802883

1998
dbSNP: rs746979262
rs746979262
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014
dbSNP: rs746979262
rs746979262
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: rs746979262
rs746979262
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: rs770285398
rs770285398
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs794727501
rs794727501
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR