Gene: CYP27A1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908096
rs121908096
CYP27A1
0.830 GeneticVariation UNIPROT Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 12000359

2002
dbSNP: rs121908096
rs121908096
CYP27A1
0.830 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: rs121908096
rs121908096
CYP27A1
0.830 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: rs121908096
rs121908096
CYP27A1
0.830 GeneticVariation UNIPROT Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). 7915755

1994
dbSNP: rs121908096
rs121908096
CYP27A1
0.830 GeneticVariation UNIPROT Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602

1991
dbSNP: rs121908097
rs121908097
CYP27A1
0.810 GeneticVariation UNIPROT Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 12000359

2002
dbSNP: rs121908098
rs121908098
CYP27A1
0.810 GeneticVariation UNIPROT Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 12000359

2002
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 12000359

2002
dbSNP: rs121908097
rs121908097
CYP27A1
0.810 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: rs121908098
rs121908098
CYP27A1
0.810 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: rs72551322
rs72551322
CYP27A1
0.810 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: rs121908097
rs121908097
CYP27A1
0.810 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: rs121908098
rs121908098
CYP27A1
0.810 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: rs72551322
rs72551322
CYP27A1
0.810 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: rs121908097
rs121908097
CYP27A1
0.810 GeneticVariation UNIPROT Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). 7915755

1994
dbSNP: rs121908098
rs121908098
CYP27A1
0.810 GeneticVariation UNIPROT Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). 7915755

1994
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). 7915755

1994
dbSNP: rs121908097
rs121908097
CYP27A1
0.810 GeneticVariation UNIPROT Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602

1991
dbSNP: rs121908098
rs121908098
CYP27A1
0.810 GeneticVariation UNIPROT Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602

1991
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602

1991
dbSNP: rs121908099
rs121908099
CYP27A1
0.800 GeneticVariation UNIPROT Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 12000359

2002
dbSNP: rs72551313
rs72551313
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: rs72551313
rs72551313
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
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