Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene. 24944815

2014
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT 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: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. 19701945

2009
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277

2006
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. 16361827

2005
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus. 16120822

2005
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT 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: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. 12050236

2002
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. 12191971

2002
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function. 9745427

1998
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. 9550615

1998
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. 9649557

1998
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. 9048343

1997
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. 9402087

1997
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. 9302264

1997
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. 8882880

1996
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. 8140421

1994
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.700 GeneticVariation UNIPROT Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. 7524315

1994