rs104894331

Orientation

plus

Stabilized

plus

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

Make rs104894331(A;G)

Make rs104894331(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49951033

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894331
dbSNP (classic)	rs104894331
ClinGen	rs104894331
ebi	rs104894331
HLI	rs104894331
Exac	rs104894331
Gnomad	rs104894331
Varsome	rs104894331
LitVar	rs104894331
Map	rs104894331
PheGenI	rs104894331
Biobank	rs104894331
1000 genomes	rs104894331
hgdp	rs104894331
ensembl	rs104894331
geneview	rs104894331
scholar	rs104894331
google	rs104894331
pharmgkb	rs104894331
gwascentral	rs104894331
openSNP	rs104894331
23andMe	rs104894331
SNPshot	rs104894331
SNPdbe	rs104894331
MSV3d	rs104894331
GWAS Ctlg	rs104894331

Max Magnitude

0

OMIM	107777
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894331(C;C) rs104894331(G;G)
Alt	rs104894331(C;C) rs104894331(G;G)
Reference	Rs104894331(A;A)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	AQP2 LOC101927318
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50344816A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019412.29,