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rs193922494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 4.5 Nephrogenic diabetes insipidus
(T;T) 0 common in clinvar
Make rs193922494(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49951053
GeneAQP2
is asnp
is mentioned by
dbSNPrs193922494
ebirs193922494
HLIrs193922494
Exacrs193922494
Varsomers193922494
Maprs193922494
PheGenIrs193922494
hapmaprs193922494
1000 genomesrs193922494
hgdprs193922494
ensemblrs193922494
gopubmedrs193922494
geneviewrs193922494
scholarrs193922494
googlers193922494
pharmgkbrs193922494
gwascentralrs193922494
openSNPrs193922494
23andMers193922494
23andMe allrs193922494
SNP Nexus

SNPshotrs193922494
SNPdbers193922494
MSV3drs193922494
GWAS Ctlgrs193922494
Max Magnitude4.5
ClinVar
Risk rs193922494(G;G)
Alt rs193922494(G;G)
Reference rs193922494(T;T)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AQP2 LOC101927318
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000012.11:g.50344836T>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029341.1,