rs104893740

Orientation

plus

Stabilized

plus

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

Make rs104893740(A;A)

Make rs104893740(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

50193139

Gene

GNAT1

is a	snp
is	mentioned by
dbSNP	rs104893740
dbSNP (classic)	rs104893740
ClinGen	rs104893740
ebi	rs104893740
HLI	rs104893740
Exac	rs104893740
Gnomad	rs104893740
Varsome	rs104893740
LitVar	rs104893740
Map	rs104893740
PheGenI	rs104893740
Biobank	rs104893740
1000 genomes	rs104893740
hgdp	rs104893740
ensembl	rs104893740
geneview	rs104893740
scholar	rs104893740
google	rs104893740
pharmgkb	rs104893740
gwascentral	rs104893740
openSNP	rs104893740
23andMe	rs104893740
SNPshot	rs104893740
SNPdbe	rs104893740
MSV3d	rs104893740
GWAS Ctlg	rs104893740

Max Magnitude

0

OMIM	139330
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893740(A;A)
Alt	rs104893740(A;A)
Reference	Rs104893740(G;G)
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.50230572G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017277.28,