Rs104894749

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104894749
PheGenI	rs104894749
nextbio	rs104894749
hapmap	rs104894749
1000 genomes	rs104894749
hgdp	rs104894749
ensembl	rs104894749
gopubmed	rs104894749
geneview	rs104894749
scholar	rs104894749
google	rs104894749
pharmgkb	rs104894749
gwascentral	rs104894749
openSNP	rs104894749
23andMe	rs104894749
23andMe all	rs104894749
SNP Nexus
SNPshot	rs104894749
SNPdbe	rs104894749
MSV3d	rs104894749

Gene

AVPR2

Chromosome

X

Orientation

plus

Position

153171574

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104894749(A;G)

Make rs104894749(G;G)

OMIM	300538
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894749(G;G)
Normal	rs104894749(A;A)
Significance	5
Disease	Nephrogenic diabetes insipidus
ClinVar	info
Gene	AVPR2
CLNDBN	Nephrogenic diabetes insipidus, x-linked
Reversed	0
CLNHGVS	NC_000023.10:g.153171574A>G
CLNSRC	OMIM Allelic Variant

[PMID 1303257] Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.

[PMID 7833930] Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

[PMID 7913579] Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

[PMID 10770218] Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

[PMID 11128419] Nephrogenic diabetes insipidus.

[PMID 17216256] A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.