Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Nationwide survey on cerebrotendinous xanthomatosis in Japan. 29321515

2018
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. 28623566

2017
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. 25941960

2016
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Late-onset spinal form xanthomatosis without brain lesion: a case report. 26861945

2016
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 GeneticVariation CLINVAR Late-onset spinal form xanthomatosis without brain lesion: a case report. 26861945

2016
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 GeneticVariation CLINVAR Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. 25941960

2016
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. 25447658

2014
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 GeneticVariation CLINVAR Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. 25447658

2014
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 GeneticVariation CLINVAR Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. 21958693

2012
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. 21958693

2012
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 GeneticVariation CLINVAR Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. 16816916

2006
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene. 14741198

2004
dbSNP: rs121908099
rs121908099
CYP27A1
0.800 GeneticVariation UNIPROT Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 12000359

2002
dbSNP: rs121908099
rs121908099
CYP27A1
0.800 GeneticVariation UNIPROT A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. 9790667

1998
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 CausalMutation CLINVAR Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. 9186905

1997
dbSNP: rs121908099
rs121908099
CYP27A1
A 0.800 GeneticVariation CLINVAR Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. 9186905

1997
dbSNP: rs121908099
rs121908099
CYP27A1
0.800 GeneticVariation UNIPROT Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. 9186905

1997
dbSNP: rs121908099
rs121908099
CYP27A1
0.800 GeneticVariation UNIPROT Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). 7915755

1994
dbSNP: rs121908099
rs121908099
CYP27A1
0.800 GeneticVariation UNIPROT Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602

1991