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rs193922117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922117(C;T)
Make rs193922117(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906179
GeneAVPR2
is asnp
is mentioned by
dbSNPrs193922117
ebirs193922117
HLIrs193922117
Exacrs193922117
Varsomers193922117
Maprs193922117
PheGenIrs193922117
hapmaprs193922117
1000 genomesrs193922117
hgdprs193922117
ensemblrs193922117
gopubmedrs193922117
geneviewrs193922117
scholarrs193922117
googlers193922117
pharmgkbrs193922117
gwascentralrs193922117
openSNPrs193922117
23andMers193922117
23andMe allrs193922117
SNP Nexus

SNPshotrs193922117
SNPdbers193922117
MSV3drs193922117
GWAS Ctlgrs193922117
Max Magnitude0
ClinVar
Risk rs193922117(T;T)
Alt rs193922117(T;T)
Reference rs193922117(C;C)
Significance Probable-Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171633C>T
CLNSRC ClinVar
CLNACC RCV000029394.1,


[PMID 7933835] Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.


[PMID 16502494OA-icon.png] Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.