Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193922121(-;-)
Make rs193922121(-;T)
Make rs193922121(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906344
GeneAVPR2
is asnp
is mentioned by
dbSNPrs193922121
ebirs193922121
HLIrs193922121
Exacrs193922121
Varsomers193922121
Maprs193922121
PheGenIrs193922121
hapmaprs193922121
1000 genomesrs193922121
hgdprs193922121
ensemblrs193922121
gopubmedrs193922121
geneviewrs193922121
scholarrs193922121
googlers193922121
pharmgkbrs193922121
gwascentralrs193922121
openSNPrs193922121
23andMers193922121
23andMe allrs193922121
SNP Nexus

SNPshotrs193922121
SNPdbers193922121
MSV3drs193922121
GWAS Ctlgrs193922121
Max Magnitude0
ClinVar
Risk rs193922121(T;T)
Alt rs193922121(T;T)
Reference rs193922121(;)
Significance Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171798dupT
CLNSRC ClinVar LabCorp
CLNACC RCV000029398.1,


[PMID 9773787] Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.


[PMID 10820168] Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.


[PMID 18726898] AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.