rs367995295, CYP24A1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
0.010 GeneticVariation BEFREE The novel nonsense CYP24A1 mutation, p.R223*, was also found heterozygously in other family members with a medical history of nephrolithiasis. 31288237 2019
Kidney Calculi
CUI: C0022650
Disease: Kidney Calculi
0.010 GeneticVariation BEFREE The novel nonsense CYP24A1 mutation, p.R223*, was also found heterozygously in other family members with a medical history of nephrolithiasis. 31288237 2019