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rs193922118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCCGGAC;GCCGGAC) 0 common in clinvar
(GGACGCC;GGACGCC) 0 common in clinvar
Make rs193922118(-;-)
Make rs193922118(-;GCCGGAC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906258
GeneAVPR2
is asnp
is mentioned by
dbSNPrs193922118
dbSNP (classic)rs193922118
ClinGenrs193922118
ebirs193922118
HLIrs193922118
Exacrs193922118
Gnomadrs193922118
Varsomers193922118
LitVarrs193922118
Maprs193922118
PheGenIrs193922118
Biobankrs193922118
1000 genomesrs193922118
hgdprs193922118
ensemblrs193922118
geneviewrs193922118
scholarrs193922118
googlers193922118
pharmgkbrs193922118
gwascentralrs193922118
openSNPrs193922118
23andMers193922118
SNPshotrs193922118
SNPdbers193922118
MSV3drs193922118
GWAS Ctlgrs193922118
Max Magnitude0
ClinVar
Risk rs193922118(-;-)
Alt rs193922118(-;-)
Reference Rs193922118(GGACGCC;GGACGCC)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171712_153171718delGCCGGAC
CLNSRC ClinVar LabCorp
CLNACC RCV000029395.1,