rs104894336

Orientation

plus

Stabilized

plus

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

Make rs104894336(C;G)

Make rs104894336(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49950894

Gene

AQP2

is a	snp
is	mentioned by
dbSNP	rs104894336
dbSNP (classic)	rs104894336
ClinGen	rs104894336
ebi	rs104894336
HLI	rs104894336
Exac	rs104894336
Gnomad	rs104894336
Varsome	rs104894336
LitVar	rs104894336
Map	rs104894336
PheGenI	rs104894336
Biobank	rs104894336
1000 genomes	rs104894336
hgdp	rs104894336
ensembl	rs104894336
geneview	rs104894336
scholar	rs104894336
google	rs104894336
pharmgkb	rs104894336
gwascentral	rs104894336
openSNP	rs104894336
23andMe	rs104894336
SNPshot	rs104894336
SNPdbe	rs104894336
MSV3d	rs104894336
GWAS Ctlg	rs104894336

Max Magnitude

0

OMIM	107777
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894336(G;G)
Alt	rs104894336(G;G)
Reference	Rs104894336(C;C)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	AQP2
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50344677C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019416.28,