rs104894750

Orientation

plus

Stabilized

plus

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

Make rs104894750(C;T)

Make rs104894750(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153906113

Gene

AVPR2

is a	snp
is	mentioned by
dbSNP	rs104894750
dbSNP (classic)	rs104894750
ClinGen	rs104894750
ebi	rs104894750
HLI	rs104894750
Exac	rs104894750
Gnomad	rs104894750
Varsome	rs104894750
LitVar	rs104894750
Map	rs104894750
PheGenI	rs104894750
Biobank	rs104894750
1000 genomes	rs104894750
hgdp	rs104894750
ensembl	rs104894750
geneview	rs104894750
scholar	rs104894750
google	rs104894750
pharmgkb	rs104894750
gwascentral	rs104894750
openSNP	rs104894750
23andMe	rs104894750
SNPshot	rs104894750
SNPdbe	rs104894750
MSV3d	rs104894750
GWAS Ctlg	rs104894750

Max Magnitude

0

OMIM	300538
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894750(T;T)
Alt	rs104894750(T;T)
Reference	Rs104894750(C;C)
Significance	Pathogenic
Disease	Nephrogenic diabetes insipidus
Variation	info
Gene	AVPR2
CLNDBN	Nephrogenic diabetes insipidus, X-linked
Reversed	0
HGVS	NC_000023.10:g.153171567C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011586.3,