Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778796
rs587778796
CYP27A1
T 0.700 CausalMutation CLINVAR Nationwide survey on cerebrotendinous xanthomatosis in Japan. 29321515

2018
dbSNP: rs587778796
rs587778796
CYP27A1
T 0.700 GeneticVariation CLINVAR Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients. 9521761

1998
dbSNP: rs587778796
rs587778796
CYP27A1
T 0.700 CausalMutation CLINVAR Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients. 9521761

1998