Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204010
rs118204010
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1
0.800 GeneticVariation UNIPROT
dbSNP: rs118204010
rs118204010
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1
C 0.800 CausalMutation CLINVAR