Rs104894760

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104894760
PheGenI	rs104894760
nextbio	rs104894760
hapmap	rs104894760
1000 genomes	rs104894760
hgdp	rs104894760
ensembl	rs104894760
gopubmed	rs104894760
geneview	rs104894760
scholar	rs104894760
google	rs104894760
pharmgkb	rs104894760
gwascentral	rs104894760
openSNP	rs104894760
23andMe	rs104894760
23andMe all	rs104894760
SNP Nexus
SNPshot	rs104894760
SNPdbe	rs104894760
MSV3d	rs104894760

Gene

AVPR2

Chromosome

X

Orientation

plus

Position

153171270

Reference

GRCh37 37.1/132

Max Magnitude

0

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104894760(C;T)

Make rs104894760(T;T)

OMIM	300538
Desc
Variant	0020
Related	also

ClinVar
Risk	rs104894760(T;T)
Normal	rs104894760(C;C)
Significance	5
Disease	Nephrogenic diabetes insipidus
ClinVar	info
Gene	AVPR2
CLNDBN	Nephrogenic diabetes insipidus, x-linked
Reversed	0
CLNHGVS	NC_000023.10:g.153171270C>T
CLNSRC	OMIM Allelic Variant

[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.