rs28931580

Orientation

plus

Stabilized

plus

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

Make rs28931580(A;C)

Make rs28931580(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49951000

Gene

AQP2

is a	snp
is	mentioned by
dbSNP	rs28931580
dbSNP (classic)	rs28931580
ClinGen	rs28931580
ebi	rs28931580
HLI	rs28931580
Exac	rs28931580
Gnomad	rs28931580
Varsome	rs28931580
LitVar	rs28931580
Map	rs28931580
PheGenI	rs28931580
Biobank	rs28931580
1000 genomes	rs28931580
hgdp	rs28931580
ensembl	rs28931580
geneview	rs28931580
scholar	rs28931580
google	rs28931580
pharmgkb	rs28931580
gwascentral	rs28931580
openSNP	rs28931580
23andMe	rs28931580
SNPshot	rs28931580
SNPdbe	rs28931580
MSV3d	rs28931580
GWAS Ctlg	rs28931580

Max Magnitude

0

OMIM	107777
Desc	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
Variant	0016
Related	also

ClinVar
Risk	rs28931580(C;C)
Alt	rs28931580(C;C)
Reference	Rs28931580(A;A)
Significance	Pathogenic
Disease	Diabetes insipidus
Variation	info
Gene	AQP2
CLNDBN	Diabetes insipidus, nephrogenic, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.50344783A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019420.29,