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rs193922112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922112(C;C)
Make rs193922112(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905682
GeneAVPR2
is asnp
is mentioned by
dbSNPrs193922112
ebirs193922112
HLIrs193922112
Exacrs193922112
Varsomers193922112
Maprs193922112
PheGenIrs193922112
hapmaprs193922112
1000 genomesrs193922112
hgdprs193922112
ensemblrs193922112
gopubmedrs193922112
geneviewrs193922112
scholarrs193922112
googlers193922112
pharmgkbrs193922112
gwascentralrs193922112
openSNPrs193922112
23andMers193922112
23andMe allrs193922112
SNP Nexus

SNPshotrs193922112
SNPdbers193922112
MSV3drs193922112
GWAS Ctlgrs193922112
Max Magnitude0
ClinVar
Risk rs193922112(C;C)
Alt rs193922112(C;C)
Reference rs193922112(T;T)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171136T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029386.1,


[PMID 16689] Regulation of the pentose phosphate cycle in the brain by NADPH inhibition of dehydrogenase system.


[PMID 10749568OA-icon.png] Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.


[PMID 10918636] Localization of G-protein-coupled receptors in health and disease.


[PMID 11128419] Nephrogenic diabetes insipidus.


[PMID 16319185] Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.


[PMID 19729439OA-icon.png] Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus.