rs61495246, CYP2R1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
0.800 CausalMutation CLINVAR
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
0.800 GeneticVariation UNIPROT
Rickets
CUI: C0035579
Disease: Rickets
0.010 GeneticVariation BEFREE The L99P mutation had previously been reported as a homozygous defect in an unrelated child of Nigerian origin with rickets. 27473561 2017