rs1057517053

Orientation

minus

Stabilized

minus

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

Make rs1057517053(-;-)

Make rs1057517053(-;AGGC)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

86668103

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs1057517053
dbSNP (classic)	rs1057517053
ClinGen	rs1057517053
ebi	rs1057517053
HLI	rs1057517053
Exac	rs1057517053
Gnomad	rs1057517053
Varsome	rs1057517053
LitVar	rs1057517053
Map	rs1057517053
PheGenI	rs1057517053
Biobank	rs1057517053
1000 genomes	rs1057517053
hgdp	rs1057517053
ensembl	rs1057517053
geneview	rs1057517053
scholar	rs1057517053
google	rs1057517053
pharmgkb	rs1057517053
gwascentral	rs1057517053
openSNP	rs1057517053
23andMe	rs1057517053
SNPshot	rs1057517053
SNPdbe	rs1057517053
MSV3d	rs1057517053
GWAS Ctlg	rs1057517053

Max Magnitude

0

ClinVar
Risk	rs1057517053(-;-)
Alt	rs1057517053(-;-)
Reference	Rs1057517053(AGGC;AGGC)
Significance	Probable-Pathogenic
Disease	Achromatopsia 3
Variation	info
Gene	CNGB3
CLNDBN	Achromatopsia 3
Reversed	1
HGVS	NC_000008.10:g.87680331_87680334delGCCT
CLNSRC
CLNACC	RCV000409215.1,