Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72551317
rs72551317
CYP27A1
G 0.700 GeneticVariation CLINVAR Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 22878431

2013
dbSNP: rs72551317
rs72551317
CYP27A1
G 0.700 GeneticVariation CLINVAR When expressed in E. coli, 3 mutants, K226R, D321G, and P408S, each known to cause clinically CTX, showed modest decreases in reduced CO spectra peak and either no change or decreases of less than 50% in hydroxylation of cholesterol, vitamin D(3), and 1alphaOHD(3) compared with wild type. 17697869

2007
dbSNP: rs72551317
rs72551317
CYP27A1
G 0.700 GeneticVariation CLINVAR Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. 11181744

2001
dbSNP: rs72551317
rs72551317
CYP27A1
G 0.700 GeneticVariation CLINVAR Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. 10775536

2000
dbSNP: rs72551317
rs72551317
CYP27A1
G 0.700 CausalMutation CLINVAR