rs193922122

Orientation

plus

Stabilized

plus

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

Make rs193922122(C;C)

Make rs193922122(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153906359

Gene

AVPR2

is a	snp
is	mentioned by
dbSNP	rs193922122
dbSNP (classic)	rs193922122
ClinGen	rs193922122
ebi	rs193922122
HLI	rs193922122
Exac	rs193922122
Gnomad	rs193922122
Varsome	rs193922122
LitVar	rs193922122
Map	rs193922122
PheGenI	rs193922122
Biobank	rs193922122
1000 genomes	rs193922122
hgdp	rs193922122
ensembl	rs193922122
geneview	rs193922122
scholar	rs193922122
google	rs193922122
pharmgkb	rs193922122
gwascentral	rs193922122
openSNP	rs193922122
23andMe	rs193922122
SNPshot	rs193922122
SNPdbe	rs193922122
MSV3d	rs193922122
GWAS Ctlg	rs193922122

Max Magnitude

0

ClinVar
Risk	rs193922122(C;C)
Alt	rs193922122(C;C)
Reference	Rs193922122(G;G)
Significance	Probable-Pathogenic
Disease	Nephrogenic diabetes insipidus
Variation	info
Gene	AVPR2
CLNDBN	Nephrogenic diabetes insipidus
Reversed	0
HGVS	NC_000023.10:g.153171813G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000029399.1,

[PMID 7541187] Molecular biology of diabetes insipidus.

[PMID 8037205] Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

[PMID 8766931] Molecular analysis of X-linked nephrogenic diabetes insipidus.

[PMID 8815789] Defects in G protein-coupled signal transduction in human disease.

[PMID 18407239] Molecular characterization of nephrogenic diabetes insipidus.