Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72551312
rs72551312
CYP27A1
T 0.700 CausalMutation CLINVAR Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. 29269672

2018
dbSNP: rs72551312
rs72551312
CYP27A1
T 0.700 CausalMutation CLINVAR Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. 28623566

2017
dbSNP: rs72551312
rs72551312
CYP27A1
T 0.700 CausalMutation CLINVAR Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis. 20558929

2010