rs193922494

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	4.5	Nephrogenic diabetes insipidus
(T;T)	0	common in clinvar

Make rs193922494(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49951053

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs193922494
dbSNP (classic)	rs193922494
ClinGen	rs193922494
ebi	rs193922494
HLI	rs193922494
Exac	rs193922494
Gnomad	rs193922494
Varsome	rs193922494
LitVar	rs193922494
Map	rs193922494
PheGenI	rs193922494
Biobank	rs193922494
1000 genomes	rs193922494
hgdp	rs193922494
ensembl	rs193922494
geneview	rs193922494
scholar	rs193922494
google	rs193922494
pharmgkb	rs193922494
gwascentral	rs193922494
openSNP	rs193922494
23andMe	rs193922494
SNPshot	rs193922494
SNPdbe	rs193922494
MSV3d	rs193922494
GWAS Ctlg	rs193922494

Max Magnitude

4.5

ClinVar
Risk	Rs193922494(G;G)
Alt	Rs193922494(G;G)
Reference	Rs193922494(T;T)
Significance	Probable-Pathogenic
Disease	Nephrogenic diabetes insipidus
Variation	info
Gene	LOC101927318 AQP2
CLNDBN	Nephrogenic diabetes insipidus
Reversed	0
HGVS	NC_000012.11:g.50344836T>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029341.1,