rs104894337

Orientation

plus

Stabilized

plus

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

Make rs104894337(C;G)

Make rs104894337(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49954647

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894337
dbSNP (classic)	rs104894337
ClinGen	rs104894337
ebi	rs104894337
HLI	rs104894337
Exac	rs104894337
Gnomad	rs104894337
Varsome	rs104894337
LitVar	rs104894337
Map	rs104894337
PheGenI	rs104894337
Biobank	rs104894337
1000 genomes	rs104894337
hgdp	rs104894337
ensembl	rs104894337
geneview	rs104894337
scholar	rs104894337
google	rs104894337
pharmgkb	rs104894337
gwascentral	rs104894337
openSNP	rs104894337
23andMe	rs104894337
SNPshot	rs104894337
SNPdbe	rs104894337
MSV3d	rs104894337
GWAS Ctlg	rs104894337

Max Magnitude

0

OMIM	107777
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894337(G;G) rs104894337(T;T)
Alt	rs104894337(G;G) rs104894337(T;T)
Reference	Rs104894337(C;C)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	LOC101927318 AQP2
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50348430C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019417.29,