AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.810 GeneticVariation BEFREE We report on a family affected by NSIAD with the known mutation R137C, an arginine to cysteine substitution at amino acid 137. 22154540 2012
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.810 GeneticVariation UNIPROT Nephrogenic syndrome of inappropriate antidiuresis. 15872203 2005
dbSNP: rs104894761
rs104894761
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		T 0.810 CausalMutation CLINVAR