Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72551318
rs72551318
CYP27A1
T 0.700 CausalMutation CLINVAR Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. 27084087

2016
dbSNP: rs72551318
rs72551318
CYP27A1
T 0.700 CausalMutation CLINVAR Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 22878431

2013