rs1057517388

Orientation

minus

Stabilized

minus

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

Make rs1057517388(A;G)

Make rs1057517388(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

86578865

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs1057517388
dbSNP (classic)	rs1057517388
ClinGen	rs1057517388
ebi	rs1057517388
HLI	rs1057517388
Exac	rs1057517388
Gnomad	rs1057517388
Varsome	rs1057517388
LitVar	rs1057517388
Map	rs1057517388
PheGenI	rs1057517388
Biobank	rs1057517388
1000 genomes	rs1057517388
hgdp	rs1057517388
ensembl	rs1057517388
geneview	rs1057517388
scholar	rs1057517388
google	rs1057517388
pharmgkb	rs1057517388
gwascentral	rs1057517388
openSNP	rs1057517388
23andMe	rs1057517388
SNPshot	rs1057517388
SNPdbe	rs1057517388
MSV3d	rs1057517388
GWAS Ctlg	rs1057517388

Max Magnitude

0

ClinVar
Risk	rs1057517388(G;G)
Alt	rs1057517388(G;G)
Reference	Rs1057517388(A;A)
Significance	Probable-Pathogenic
Disease	Achromatopsia 3
Variation	info
Gene	CNGB3
CLNDBN	Achromatopsia 3
Reversed	1
HGVS	NC_000008.10:g.87591093T>C
CLNSRC
CLNACC	RCV000410908.1,