Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs118204009
rs118204009
CYP27B1
T 0.800 GeneticVariation CLINVAR Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. 9837822

1998
dbSNP: rs118204009
rs118204009
CYP27B1
T 0.800 CausalMutation CLINVAR

dbSNP: rs118204009
rs118204009
CYP27B1
0.800 GeneticVariation UNIPROT