Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778818
rs587778818
CYP27A1
A 0.700 CausalMutation CLINVAR Whole-exome sequencing assuming recessive inheritance determined his genetic diagnosis to be cerebrotendinous xanthomatosis caused by homozygous mutations (c.410G>A or p.Arg137Gln) in the cytochrome P450 subfamily 27 A1 (CYP27A1) gene. 29269672

2018
dbSNP: rs587778818
rs587778818
CYP27A1
A 0.700 CausalMutation CLINVAR Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. 28623566

2017
dbSNP: rs587778818
rs587778818
CYP27A1
A 0.700 CausalMutation CLINVAR To our knowledge, this is the first report in which the Arg104Gln mutation is identified in CTX patients. 20558929

2010
dbSNP: rs587778818
rs587778818
CYP27A1
A 0.700 CausalMutation CLINVAR Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D. 17697869

2007
dbSNP: rs587778818
rs587778818
CYP27A1
A 0.700 CausalMutation CLINVAR A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis. 8006521

1994