Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515353
rs397515353
CYP27A1
A 0.700 CausalMutation CLINVAR Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. 27084087

2016
dbSNP: rs397515353
rs397515353
CYP27A1
A 0.700 CausalMutation CLINVAR Neurophysiological study in cerebrotendinous xanthomatosis. 21404287

2011
dbSNP: rs397515353
rs397515353
CYP27A1
A 0.700 CausalMutation CLINVAR Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. 8514861

1993