Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922120
rs193922120
AVPR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922121
rs193922121
AVPR2
CT 0.700 CausalMutation CLINVAR

dbSNP: rs193922122
rs193922122
AVPR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922123
rs193922123
AVPR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922494
rs193922494
AQP2 ; LOC101927318
G 0.700 GeneticVariation CLINVAR

dbSNP: rs193922495
rs193922495
AQP2 ; LOC101927318
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922496
rs193922496
AQP2 ; LOC101927318
G 0.700 GeneticVariation CLINVAR

dbSNP: rs28935496
rs28935496
AVPR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052096
rs796052096
AVPR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894756
rs104894756
AVPR2
0.710 GeneticVariation BEFREE R137H mutations have been reported previously to cause nephrogenic diabetes insipidus. 16843086

2006
dbSNP: rs139913957
rs139913957
AQP2 ; LOC101927318
0.010 GeneticVariation BEFREE p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. 19585583

2009
dbSNP: rs104894339
rs104894339
AQP2 ; LOC101927318
0.010 GeneticVariation BEFREE A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. 15509592

2004
dbSNP: rs770932012
rs770932012
AQP2 ; LOC101927318
0.010 GeneticVariation BEFREE Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. 19458121

2009
dbSNP: rs104894748
rs104894748
AVPR2
0.710 GeneticVariation BEFREE In addition to the functional significance of the conserved cysteine residues, we have also analyzed the defects of two mutant V2 receptors which cause X-linked nephrogenic diabetes insipidus (NDI) by the introduction of additional cysteine residues into the second extracellular loop (mutants G185C, R202C). 10648821

2000
dbSNP: rs782806507
rs782806507
AVPR2
0.010 GeneticVariation BEFREE In addition to the functional significance of the conserved cysteine residues, we have also analyzed the defects of two mutant V2 receptors which cause X-linked nephrogenic diabetes insipidus (NDI) by the introduction of additional cysteine residues into the second extracellular loop (mutants G185C, R202C). 10648821

2000
dbSNP: rs104894332
rs104894332
AQP2 ; LOC101927318
0.010 GeneticVariation BEFREE Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. 19701945

2009
dbSNP: rs104894333
rs104894333
AQP2 ; LOC101927318
0.010 GeneticVariation BEFREE These results provide evidence that the nephrogenic diabetes insipidus in patients with T125M and G175R mutations is attributable not to the misrouting of AQP2, but to the disrupted water channel function. 9745427

1998
dbSNP: rs104894335
rs104894335
AQP2 ; LOC101927318
0.010 GeneticVariation BEFREE These results provide evidence that the nephrogenic diabetes insipidus in patients with T125M and G175R mutations is attributable not to the misrouting of AQP2, but to the disrupted water channel function. 9745427

1998