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rs193922113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922113(C;C)
Make rs193922113(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905796
GeneAVPR2
is asnp
is mentioned by
dbSNPrs193922113
dbSNP (classic)rs193922113
ClinGenrs193922113
ebirs193922113
HLIrs193922113
Exacrs193922113
Gnomadrs193922113
Varsomers193922113
LitVarrs193922113
Maprs193922113
PheGenIrs193922113
Biobankrs193922113
1000 genomesrs193922113
hgdprs193922113
ensemblrs193922113
geneviewrs193922113
scholarrs193922113
googlers193922113
pharmgkbrs193922113
gwascentralrs193922113
openSNPrs193922113
23andMers193922113
SNPshotrs193922113
SNPdbers193922113
MSV3drs193922113
GWAS Ctlgrs193922113
Max Magnitude0
ClinVar
Risk rs193922113(C;C)
Alt rs193922113(C;C)
Reference Rs193922113(T;T)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171250T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029387.1,