rs104894004

Orientation

plus

Stabilized

plus

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

Make rs104894004(C;T)

Make rs104894004(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30912022

Gene

AQP1

is a	snp
is	mentioned by
dbSNP	rs104894004
dbSNP (classic)	rs104894004
ClinGen	rs104894004
ebi	rs104894004
HLI	rs104894004
Exac	rs104894004
Gnomad	rs104894004
Varsome	rs104894004
LitVar	rs104894004
Map	rs104894004
PheGenI	rs104894004
Biobank	rs104894004
1000 genomes	rs104894004
hgdp	rs104894004
ensembl	rs104894004
geneview	rs104894004
scholar	rs104894004
google	rs104894004
pharmgkb	rs104894004
gwascentral	rs104894004
openSNP	rs104894004
23andMe	rs104894004
SNPshot	rs104894004
SNPdbe	rs104894004
MSV3d	rs104894004
GWAS Ctlg	rs104894004

Max Magnitude

0

OMIM	107776
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894004(T;T)
Alt	rs104894004(T;T)
Reference	Rs104894004(C;C)
Significance	Pathogenic
Disease	Aquaporin 1 deficiency Colton-null
Variation	info
Gene	AQP1
CLNDBN	Aquaporin 1 deficiency Colton-null
Reversed	0
HGVS	NC_000007.13:g.30951637C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019425.27, RCV000019426.27,