rs28934878

Orientation

minus

Stabilized

minus

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

Make rs28934878(C;C)

Make rs28934878(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

3083099

Gene

AVP

is a	snp
is	mentioned by
dbSNP	rs28934878
dbSNP (classic)	rs28934878
ClinGen	rs28934878
ebi	rs28934878
HLI	rs28934878
Exac	rs28934878
Gnomad	rs28934878
Varsome	rs28934878
LitVar	rs28934878
Map	rs28934878
PheGenI	rs28934878
Biobank	rs28934878
1000 genomes	rs28934878
hgdp	rs28934878
ensembl	rs28934878
geneview	rs28934878
scholar	rs28934878
google	rs28934878
pharmgkb	rs28934878
gwascentral	rs28934878
openSNP	rs28934878
23andMe	rs28934878
SNPshot	rs28934878
SNPdbe	rs28934878
MSV3d	rs28934878
GWAS Ctlg	rs28934878

Max Magnitude

0

OMIM	192340
Desc	DIABETES INSIPIDUS, FAMILIAL CENTRAL
Variant	0019
Related	also

ClinVar
Risk	rs28934878(C;C)
Alt	rs28934878(C;C)
Reference	Rs28934878(T;T)
Significance	Pathogenic
Disease	Neurohypophyseal diabetes insipidus
Variation	info
Gene	AVP
CLNDBN	Neurohypophyseal diabetes insipidus
Reversed	1
HGVS	NC_000020.10:g.3063745A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013002.22,