rs1051744, AVP

N. diseases: 1
Disease: Congenital Nephrogenic Diabetes Insipidus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Nephrogenic Diabetes Insipidus
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
0.010 GeneticVariation BEFREE These results provide evidence that the Q57P and G100V mutations in congenital nephrogenic diabetes insipidus are attributable to the misrouting of AQP2. 12050236 2002