Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777222
rs587777222
C 0.700 CausalMutation CLINVAR Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. 24519355

2014

dbSNP: rs587777222
rs587777222
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
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
C 0.700 CausalMutation CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420

2009