rs104894339

Orientation

plus

Stabilized

plus

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

Make rs104894339(C;T)

Make rs104894339(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49955577

Gene	AQP2, LOC101927318

is a	snp
is	mentioned by
dbSNP	rs104894339
dbSNP (classic)	rs104894339
ClinGen	rs104894339
ebi	rs104894339
HLI	rs104894339
Exac	rs104894339
Gnomad	rs104894339
Varsome	rs104894339
LitVar	rs104894339
Map	rs104894339
PheGenI	rs104894339
Biobank	rs104894339
1000 genomes	rs104894339
hgdp	rs104894339
ensembl	rs104894339
geneview	rs104894339
scholar	rs104894339
google	rs104894339
pharmgkb	rs104894339
gwascentral	rs104894339
openSNP	rs104894339
23andMe	rs104894339
SNPshot	rs104894339
SNPdbe	rs104894339
MSV3d	rs104894339
GWAS Ctlg	rs104894339

Max Magnitude

0

OMIM	107777
Desc
Variant	0018
Related	also

ClinVar
Risk	rs104894339(T;T)
Alt	rs104894339(T;T)
Reference	Rs104894339(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.50349360C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019422.25,