rs1057516504

Orientation

minus

Stabilized

minus

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

Make rs1057516504(A;A)

Make rs1057516504(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

86611672

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs1057516504
dbSNP (classic)	rs1057516504
ClinGen	rs1057516504
ebi	rs1057516504
HLI	rs1057516504
Exac	rs1057516504
Gnomad	rs1057516504
Varsome	rs1057516504
LitVar	rs1057516504
Map	rs1057516504
PheGenI	rs1057516504
Biobank	rs1057516504
1000 genomes	rs1057516504
hgdp	rs1057516504
ensembl	rs1057516504
geneview	rs1057516504
scholar	rs1057516504
google	rs1057516504
pharmgkb	rs1057516504
gwascentral	rs1057516504
openSNP	rs1057516504
23andMe	rs1057516504
SNPshot	rs1057516504
SNPdbe	rs1057516504
MSV3d	rs1057516504
GWAS Ctlg	rs1057516504

Max Magnitude

0

ClinVar
Risk	rs1057516504(A;A)
Alt	rs1057516504(A;A)
Reference	Rs1057516504(G;G)
Significance	Probable-Pathogenic
Disease	Achromatopsia 3
Variation	info
Gene	CNGB3
CLNDBN	Achromatopsia 3
Reversed	1
HGVS	NC_000008.10:g.87623900C>T
CLNSRC
CLNACC	RCV000409806.1,