Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1049648051
rs1049648051
Entrez Id: 551
Gene Symbol: AVP
AVP
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.010 GeneticVariation BEFREE Our study demonstrated that the R104C mutation of the V2 receptor was a cause of NDI. 11232028 2001