rs104894335

Orientation

plus

Stabilized

plus

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

Make rs104894335(A;A)

Make rs104894335(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49954317

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894335
dbSNP (classic)	rs104894335
ClinGen	rs104894335
ebi	rs104894335
HLI	rs104894335
Exac	rs104894335
Gnomad	rs104894335
Varsome	rs104894335
LitVar	rs104894335
Map	rs104894335
PheGenI	rs104894335
Biobank	rs104894335
1000 genomes	rs104894335
hgdp	rs104894335
ensembl	rs104894335
geneview	rs104894335
scholar	rs104894335
google	rs104894335
pharmgkb	rs104894335
gwascentral	rs104894335
openSNP	rs104894335
23andMe	rs104894335
SNPshot	rs104894335
SNPdbe	rs104894335
MSV3d	rs104894335
GWAS Ctlg	rs104894335

Max Magnitude

0

OMIM	107777
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894335(A;A)
Alt	rs104894335(A;A)
Reference	Rs104894335(G;G)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	AQP2 LOC101927318
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50348100G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019413.28,