rs121907892, SLC22A12

N. diseases: 8
Disease: Urolithiasis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Urolithiasis
CUI: C0451641
Disease: Urolithiasis
0.020 GeneticVariation BEFREE The patient had compound heterozygous mutations in the hURAT1 gene (R90H and W258X), but showed no clinical manifestations such as urolithiasis or exercise-induced acute renal failure. 17362586 2007
Urolithiasis
CUI: C0451641
Disease: Urolithiasis
0.020 GeneticVariation BEFREE She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure. 16724660 2006