Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety. 15538939

2004

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. 12359138

2003

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. 12931042

2003

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. 12519420

2003

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene. 11980620

2002

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor. 12107248

2002

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone. 11443218

2001

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. 11161827

2001

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus. 11017955

2000

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene. 10677561

2000

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. 10487710

1999

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. 10369876

1999

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. 9814475

1998

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. 9580132

1998

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. 9360520

1997

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. 8554046

1996

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus. 8045958

1994

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. 8370682

1993

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. 8103767

1993

dbSNP: rs121964883
rs121964883
AVP
0.800 GeneticVariation UNIPROT A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. 1740104

1992

dbSNP: rs121964883
rs121964883
AVP
A 0.800 CausalMutation CLINVAR