rs1057517454

Orientation

minus

Stabilized

minus

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

Make rs1057517454(C;C)

Make rs1057517454(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

86579104

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs1057517454
dbSNP (classic)	rs1057517454
ClinGen	rs1057517454
ebi	rs1057517454
HLI	rs1057517454
Exac	rs1057517454
Gnomad	rs1057517454
Varsome	rs1057517454
LitVar	rs1057517454
Map	rs1057517454
PheGenI	rs1057517454
Biobank	rs1057517454
1000 genomes	rs1057517454
hgdp	rs1057517454
ensembl	rs1057517454
geneview	rs1057517454
scholar	rs1057517454
google	rs1057517454
pharmgkb	rs1057517454
gwascentral	rs1057517454
openSNP	rs1057517454
23andMe	rs1057517454
SNPshot	rs1057517454
SNPdbe	rs1057517454
MSV3d	rs1057517454
GWAS Ctlg	rs1057517454

Max Magnitude

0

ClinVar
Risk	rs1057517454(C;C)
Alt	rs1057517454(C;C)
Reference	Rs1057517454(T;T)
Significance	Probable-Pathogenic
Disease	Achromatopsia 3
Variation	info
Gene	CNGB3
CLNDBN	Achromatopsia 3
Reversed	1
HGVS	NC_000008.10:g.87591332A>G
CLNSRC
CLNACC	RCV000411120.1,