rs147876778

Orientation

plus

Stabilized

plus

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

Make rs147876778(C;T)

Make rs147876778(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

86632864

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs147876778
dbSNP (classic)	rs147876778
ClinGen	rs147876778
ebi	rs147876778
HLI	rs147876778
Exac	rs147876778
Gnomad	rs147876778
Varsome	rs147876778
LitVar	rs147876778
Map	rs147876778
PheGenI	rs147876778
Biobank	rs147876778
1000 genomes	rs147876778
hgdp	rs147876778
ensembl	rs147876778
geneview	rs147876778
scholar	rs147876778
google	rs147876778
pharmgkb	rs147876778
gwascentral	rs147876778
openSNP	rs147876778
23andMe	rs147876778
SNPshot	rs147876778
SNPdbe	rs147876778
MSV3d	rs147876778
GWAS Ctlg	rs147876778

Max Magnitude

0

ClinVar
Risk	rs147876778(T;T)
Alt	rs147876778(T;T)
Reference	Rs147876778(C;C)
Significance	Pathogenic
Disease	not provided Achromatopsia 3 Stargardt disease 1 not specified
Variation	info
Gene	CNGB3
CLNDBN	not provided Achromatopsia 3 Stargardt disease 1 not specified
Reversed	0
HGVS	NC_000008.10:g.87645092C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000132679.1, RCV000174144.1, RCV000195502.1, RCV000435881.1,