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rs193922495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922495(A;A)
Make rs193922495(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49954664
GeneAQP2
is asnp
is mentioned by
dbSNPrs193922495
ebirs193922495
HLIrs193922495
Exacrs193922495
Varsomers193922495
Maprs193922495
PheGenIrs193922495
hapmaprs193922495
1000 genomesrs193922495
hgdprs193922495
ensemblrs193922495
gopubmedrs193922495
geneviewrs193922495
scholarrs193922495
googlers193922495
pharmgkbrs193922495
gwascentralrs193922495
openSNPrs193922495
23andMers193922495
23andMe allrs193922495
SNP Nexus

SNPshotrs193922495
SNPdbers193922495
MSV3drs193922495
GWAS Ctlgrs193922495
Max Magnitude0
ClinVar
Risk rs193922495(A;A)
Alt rs193922495(A;A)
Reference rs193922495(G;G)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AQP2 LOC101927318
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000012.11:g.50348447G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029345.1,


[PMID 16361827OA-icon.png] Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.


[PMID 18470935] Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.