Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs573951598
rs573951598
CYP27A1
T 0.700 CausalMutation CLINVAR Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup. 22197981

2012
dbSNP: rs573951598
rs573951598
CYP27A1
T 0.700 CausalMutation CLINVAR Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis. 21955034

2012
dbSNP: rs573951598
rs573951598
CYP27A1
T 0.700 CausalMutation CLINVAR Neurophysiological study in cerebrotendinous xanthomatosis. 21404287

2011
dbSNP: rs573951598
rs573951598
CYP27A1
T 0.700 CausalMutation CLINVAR Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. 21645175

2011
dbSNP: rs573951598
rs573951598
CYP27A1
T 0.700 CausalMutation CLINVAR Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis. 14999499

2004
dbSNP: rs573951598
rs573951598
CYP27A1
T 0.700 CausalMutation CLINVAR Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. 10775536

2000