rs193922117

Orientation

plus

Stabilized

plus

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

Make rs193922117(C;T)

Make rs193922117(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153906179

Gene

AVPR2

is a	snp
is	mentioned by
dbSNP	rs193922117
dbSNP (classic)	rs193922117
ClinGen	rs193922117
ebi	rs193922117
HLI	rs193922117
Exac	rs193922117
Gnomad	rs193922117
Varsome	rs193922117
LitVar	rs193922117
Map	rs193922117
PheGenI	rs193922117
Biobank	rs193922117
1000 genomes	rs193922117
hgdp	rs193922117
ensembl	rs193922117
geneview	rs193922117
scholar	rs193922117
google	rs193922117
pharmgkb	rs193922117
gwascentral	rs193922117
openSNP	rs193922117
23andMe	rs193922117
SNPshot	rs193922117
SNPdbe	rs193922117
MSV3d	rs193922117
GWAS Ctlg	rs193922117

Max Magnitude

0

ClinVar
Risk	rs193922117(T;T)
Alt	rs193922117(T;T)
Reference	Rs193922117(C;C)
Significance	Probable-Pathogenic
Disease	Nephrogenic diabetes insipidus
Variation	info
Gene	AVPR2
CLNDBN	Nephrogenic diabetes insipidus
Reversed	0
HGVS	NC_000023.10:g.153171633C>T
CLNSRC	ClinVar
CLNACC	RCV000029394.1,

[PMID 7933835] Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.

[PMID 16502494] Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.