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rs193922122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922122(C;C)
Make rs193922122(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906359
GeneAVPR2
is asnp
is mentioned by
dbSNPrs193922122
ebirs193922122
HLIrs193922122
Exacrs193922122
Varsomers193922122
Maprs193922122
PheGenIrs193922122
hapmaprs193922122
1000 genomesrs193922122
hgdprs193922122
ensemblrs193922122
gopubmedrs193922122
geneviewrs193922122
scholarrs193922122
googlers193922122
pharmgkbrs193922122
gwascentralrs193922122
openSNPrs193922122
23andMers193922122
23andMe allrs193922122
SNP Nexus

SNPshotrs193922122
SNPdbers193922122
MSV3drs193922122
GWAS Ctlgrs193922122
Max Magnitude0
ClinVar
Risk rs193922122(C;C)
Alt rs193922122(C;C)
Reference rs193922122(G;G)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171813G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029399.1,


[PMID 7541187] Molecular biology of diabetes insipidus.


[PMID 8037205OA-icon.png] Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.


[PMID 8766931] Molecular analysis of X-linked nephrogenic diabetes insipidus.


[PMID 8815789] Defects in G protein-coupled signal transduction in human disease.


[PMID 18407239] Molecular characterization of nephrogenic diabetes insipidus.