Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934604
rs28934604
CYP27B1
T 0.800 GeneticVariation CLINVAR Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A. 25284246

2015
dbSNP: rs28934604
rs28934604
CYP27B1
T 0.800 GeneticVariation CLINVAR CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells. 23423976

2013
dbSNP: rs118204009
rs118204009
CYP27B1
T 0.800 GeneticVariation CLINVAR Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. 22443290

2012
dbSNP: rs118204009
rs118204009
CYP27B1
T 0.800 GeneticVariation CLINVAR Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy. 21700898

2011
dbSNP: rs118204009
rs118204009
CYP27B1
T 0.800 GeneticVariation CLINVAR Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 12050193

2002
dbSNP: rs28934604
rs28934604
CYP27B1
0.800 GeneticVariation UNIPROT Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 12050193

2002
dbSNP: rs28934605
rs28934605
CYP27B1
0.800 GeneticVariation UNIPROT Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 12050193

2002
dbSNP: rs28934606
rs28934606
CYP27B1
0.800 GeneticVariation UNIPROT Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 12050193

2002
dbSNP: rs28934607
rs28934607
CYP27B1
0.800 GeneticVariation UNIPROT Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 12050193

2002
dbSNP: rs118204009
rs118204009
CYP27B1
T 0.800 GeneticVariation CLINVAR Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX). 11737215

2001
dbSNP: rs28934604
rs28934604
CYP27B1
T 0.800 GeneticVariation CLINVAR Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX). 11737215

2001
dbSNP: rs28934604
rs28934604
CYP27B1
0.800 GeneticVariation UNIPROT Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. 10320521

1999
dbSNP: rs28934604
rs28934604
CYP27B1
0.800 GeneticVariation UNIPROT No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. 10566658

1999
dbSNP: rs28934604
rs28934604
CYP27B1
T 0.800 GeneticVariation CLINVAR Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli. 10518789

1999
dbSNP: rs28934605
rs28934605
CYP27B1
0.800 GeneticVariation UNIPROT Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. 10320521

1999
dbSNP: rs28934605
rs28934605
CYP27B1
0.800 GeneticVariation UNIPROT No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. 10566658

1999
dbSNP: rs28934606
rs28934606
CYP27B1
0.800 GeneticVariation UNIPROT No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. 10566658

1999
dbSNP: rs28934606
rs28934606
CYP27B1
0.800 GeneticVariation UNIPROT Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. 10320521

1999
dbSNP: rs28934607
rs28934607
CYP27B1
0.800 GeneticVariation UNIPROT Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. 10320521

1999
dbSNP: rs28934607
rs28934607
CYP27B1
0.800 GeneticVariation UNIPROT No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. 10566658

1999
dbSNP: rs118204009
rs118204009
CYP27B1
T 0.800 GeneticVariation CLINVAR Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. 9837822

1998
dbSNP: rs28934604
rs28934604
CYP27B1
0.800 GeneticVariation UNIPROT Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. 9486994

1998
dbSNP: rs28934604
rs28934604
CYP27B1
0.800 GeneticVariation UNIPROT Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. 9837822

1998
dbSNP: rs28934604
rs28934604
CYP27B1
T 0.800 GeneticVariation CLINVAR Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. 9486994

1998
dbSNP: rs28934605
rs28934605
CYP27B1
0.800 GeneticVariation UNIPROT Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. 9486994

1998