rs104894330

Orientation

plus

Stabilized

plus

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

Make rs104894330(C;T)

Make rs104894330(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49954171

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894330
dbSNP (classic)	rs104894330
ClinGen	rs104894330
ebi	rs104894330
HLI	rs104894330
Exac	rs104894330
Gnomad	rs104894330
Varsome	rs104894330
LitVar	rs104894330
Map	rs104894330
PheGenI	rs104894330
Biobank	rs104894330
1000 genomes	rs104894330
hgdp	rs104894330
ensembl	rs104894330
geneview	rs104894330
scholar	rs104894330
google	rs104894330
pharmgkb	rs104894330
gwascentral	rs104894330
openSNP	rs104894330
23andMe	rs104894330
SNPshot	rs104894330
SNPdbe	rs104894330
MSV3d	rs104894330
GWAS Ctlg	rs104894330

Max Magnitude

0

OMIM	107777
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894330(A;A) rs104894330(T;T)
Alt	rs104894330(A;A) rs104894330(T;T)
Reference	Rs104894330(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.50347954C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019411.25,