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rs193922496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922496(-;-)
Make rs193922496(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49955577
GeneAQP2
is asnp
is mentioned by
dbSNPrs193922496
ebirs193922496
HLIrs193922496
Exacrs193922496
Varsomers193922496
Maprs193922496
PheGenIrs193922496
hapmaprs193922496
1000 genomesrs193922496
hgdprs193922496
ensemblrs193922496
gopubmedrs193922496
geneviewrs193922496
scholarrs193922496
googlers193922496
pharmgkbrs193922496
gwascentralrs193922496
openSNPrs193922496
23andMers193922496
23andMe allrs193922496
SNP Nexus

SNPshotrs193922496
SNPdbers193922496
MSV3drs193922496
GWAS Ctlgrs193922496
Max Magnitude0
ClinVar
Risk rs193922496(;)
Alt rs193922496(;)
Reference rs193922496(C;C)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene LOC101927318 AQP2
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000012.11:g.50349360delC
CLNSRC ClinVar LabCorp
CLNACC RCV000029346.1,