Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894748
rs104894748
AVPR2
0.710 GeneticVariation BEFREE In addition to the functional significance of the conserved cysteine residues, we have also analyzed the defects of two mutant V2 receptors which cause X-linked nephrogenic diabetes insipidus (NDI) by the introduction of additional cysteine residues into the second extracellular loop (mutants G185C, R202C). 10648821

2000
dbSNP: rs104894748
rs104894748
AVPR2
T 0.710 CausalMutation CLINVAR