Rs104894760

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894760(C;T)
Make rs104894760(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905816
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894760
PheGenIrs104894760
nextbiors104894760
hapmaprs104894760
1000 genomesrs104894760
hgdprs104894760
ensemblrs104894760
gopubmedrs104894760
geneviewrs104894760
scholarrs104894760
googlers104894760
pharmgkbrs104894760
gwascentralrs104894760
openSNPrs104894760
23andMers104894760
23andMe allrs104894760
SNP Nexus

SNPshotrs104894760
SNPdbers104894760
MSV3drs104894760
Max Magnitude0
OMIM300538
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104894760(T;T)
Alt rs104894760(T;T)
Reference rs104894760(C;C)
Significance Pathogenic
Disease Nephrogenic diabetes insipidus Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, X-linked Nephrogenic diabetes insipidus
Reversed 0
HGVS NC_000023.10:g.153171270C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011600.1, RCV000029388.1,


[PMID 11232] Specific effects of chloride ion on epoxide hydrolysis. The pH-dependence of the rates and mechanisms for the hydrolysis of indene oxide.

[PMID 14709855] A case of a novel mutant vasopressin receptor-dependent nephrogenic diabetes insipidus with bilateral non-obstructive hydronephrosis in a middle aged man: differentiation from aquaporin-dependent nephrogenic diabetes insipidus by response of factor VII and von Willebrand factor to 1-diamino-8-arginine vasopressin administration.

[PMID 15249704] Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus.

[PMID 17020465] Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.

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

[PMID 19812297] Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.