rs786205853

Orientation

plus

Stabilized

plus

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

Make rs786205853(C;G)

Make rs786205853(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

50194111

Gene

GNAT1

is a	snp
is	mentioned by
dbSNP	rs786205853
dbSNP (classic)	rs786205853
ClinGen	rs786205853
ebi	rs786205853
HLI	rs786205853
Exac	rs786205853
Gnomad	rs786205853
Varsome	rs786205853
LitVar	rs786205853
Map	rs786205853
PheGenI	rs786205853
Biobank	rs786205853
1000 genomes	rs786205853
hgdp	rs786205853
ensembl	rs786205853
geneview	rs786205853
scholar	rs786205853
google	rs786205853
pharmgkb	rs786205853
gwascentral	rs786205853
openSNP	rs786205853
23andMe	rs786205853
SNPshot	rs786205853
SNPdbe	rs786205853
MSV3d	rs786205853
GWAS Ctlg	rs786205853

Max Magnitude

0

ClinVar
Risk	rs786205853(G;G)
Alt	rs786205853(G;G)
Reference	Rs786205853(C;C)
Significance	Pathogenic
Disease	Congenital stationary night blindness
Variation	info
Gene	GNAT1
CLNDBN	Congenital stationary night blindness, autosomal dominant 3
Reversed	0
HGVS	NC_000003.11:g.50231544C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000171140.3,