Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation BEFREE Interestingly, we show in this report that upon heteromer formation with SCTR, R137H, a NDI-causing AVPR2 mutant that is defective in trafficking to cell surface, can functionally be rescued. 27649563

2016
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277

2006
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation BEFREE Thus, in this family, the R137H mutation is associated with either a mild or severe NDI phenotype. 11920339

2002
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. 11916004

2002
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. 11232028

2001
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus. 11026555

2000
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 10770218

2000
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online. 10694923

1998
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. 9711877

1998
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides. 9452109

1998
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. 7560098

1995
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. 7984150

1994
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus. 8045948

1994
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. 7987330

1994
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. 7833930

1994
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. 8078903

1994
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. 8037205

1994
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. 8479490

1993
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase. 8514744

1993
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. 8267567

1993
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. 1303271

1992
dbSNP: rs104894756
rs104894756
AVPR2
0.720 GeneticVariation UNIPROT Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. 1303257

1992
dbSNP: rs104894748
rs104894748
AVPR2
0.710 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277

2006
dbSNP: rs104894754
rs104894754
AVPR2
0.710 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277

2006
dbSNP: rs104894755
rs104894755
AVPR2
0.710 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277

2006