rs104894329

Orientation

plus

Stabilized

plus

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

Make rs104894329(C;C)

Make rs104894329(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49955438

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894329
dbSNP (classic)	rs104894329
ClinGen	rs104894329
ebi	rs104894329
HLI	rs104894329
Exac	rs104894329
Gnomad	rs104894329
Varsome	rs104894329
LitVar	rs104894329
Map	rs104894329
PheGenI	rs104894329
Biobank	rs104894329
1000 genomes	rs104894329
hgdp	rs104894329
ensembl	rs104894329
geneview	rs104894329
scholar	rs104894329
google	rs104894329
pharmgkb	rs104894329
gwascentral	rs104894329
openSNP	rs104894329
23andMe	rs104894329
SNPshot	rs104894329
SNPdbe	rs104894329
MSV3d	rs104894329
GWAS Ctlg	rs104894329

Max Magnitude

0

OMIM	107777
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894329(C;C)
Alt	rs104894329(C;C)
Reference	Rs104894329(T;T)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	LOC101927318 AQP2
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50349221T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019407.28,