rs104894333

Orientation

plus

Stabilized

plus

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

Make rs104894333(C;T)

Make rs104894333(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49954168

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894333
dbSNP (classic)	rs104894333
ClinGen	rs104894333
ebi	rs104894333
HLI	rs104894333
Exac	rs104894333
Gnomad	rs104894333
Varsome	rs104894333
LitVar	rs104894333
Map	rs104894333
PheGenI	rs104894333
Biobank	rs104894333
1000 genomes	rs104894333
hgdp	rs104894333
ensembl	rs104894333
geneview	rs104894333
scholar	rs104894333
google	rs104894333
pharmgkb	rs104894333
gwascentral	rs104894333
openSNP	rs104894333
23andMe	rs104894333
SNPshot	rs104894333
SNPdbe	rs104894333
MSV3d	rs104894333
GWAS Ctlg	rs104894333

Max Magnitude

0

OMIM	107777
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894333(T;T)
Alt	rs104894333(T;T)
Reference	Rs104894333(C;C)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	AQP2 LOC101927318
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50347951C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019415.28,