Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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