rs104894749

Orientation

plus

Stabilized

plus

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

Make rs104894749(A;G)

Make rs104894749(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153906120

Gene

AVPR2

is a	snp
is	mentioned by
dbSNP	rs104894749
dbSNP (classic)	rs104894749
ClinGen	rs104894749
ebi	rs104894749
HLI	rs104894749
Exac	rs104894749
Gnomad	rs104894749
Varsome	rs104894749
LitVar	rs104894749
Map	rs104894749
PheGenI	rs104894749
Biobank	rs104894749
1000 genomes	rs104894749
hgdp	rs104894749
ensembl	rs104894749
geneview	rs104894749
scholar	rs104894749
google	rs104894749
pharmgkb	rs104894749
gwascentral	rs104894749
openSNP	rs104894749
23andMe	rs104894749
SNPshot	rs104894749
SNPdbe	rs104894749
MSV3d	rs104894749
GWAS Ctlg	rs104894749

Max Magnitude

0

OMIM	300538
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894749(G;G)
Alt	rs104894749(G;G)
Reference	Rs104894749(A;A)
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.153171574A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011585.3, RCV000029393.1,

[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.