rs104894341

Orientation

plus

Stabilized

plus

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

Make rs104894341(A;A)

Make rs104894341(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49954672

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894341
dbSNP (classic)	rs104894341
ClinGen	rs104894341
ebi	rs104894341
HLI	rs104894341
Exac	rs104894341
Gnomad	rs104894341
Varsome	rs104894341
LitVar	rs104894341
Map	rs104894341
PheGenI	rs104894341
Biobank	rs104894341
1000 genomes	rs104894341
hgdp	rs104894341
ensembl	rs104894341
geneview	rs104894341
scholar	rs104894341
google	rs104894341
pharmgkb	rs104894341
gwascentral	rs104894341
openSNP	rs104894341
23andMe	rs104894341
SNPshot	rs104894341
SNPdbe	rs104894341
MSV3d	rs104894341
GWAS Ctlg	rs104894341

Max Magnitude

0

OMIM	107777
Desc
Variant	0019
Related	also

ClinVar
Risk	rs104894341(A;A)
Alt	rs104894341(A;A)
Reference	Rs104894341(G;G)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	LOC101927318 AQP2
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50348455G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019423.29,