rs1057516791

Orientation

minus

Stabilized

minus

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

Make rs1057516791(-;-)

Make rs1057516791(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

86671025

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs1057516791
dbSNP (classic)	rs1057516791
ClinGen	rs1057516791
ebi	rs1057516791
HLI	rs1057516791
Exac	rs1057516791
Gnomad	rs1057516791
Varsome	rs1057516791
LitVar	rs1057516791
Map	rs1057516791
PheGenI	rs1057516791
Biobank	rs1057516791
1000 genomes	rs1057516791
hgdp	rs1057516791
ensembl	rs1057516791
geneview	rs1057516791
scholar	rs1057516791
google	rs1057516791
pharmgkb	rs1057516791
gwascentral	rs1057516791
openSNP	rs1057516791
23andMe	rs1057516791
SNPshot	rs1057516791
SNPdbe	rs1057516791
MSV3d	rs1057516791
GWAS Ctlg	rs1057516791

Max Magnitude

0

ClinVar
Risk	rs1057516791(-;-)
Alt	rs1057516791(-;-)
Reference	Rs1057516791(A;A)
Significance	Probable-Pathogenic
Disease	Achromatopsia 3
Variation	info
Gene	CNGB3
CLNDBN	Achromatopsia 3
Reversed	1
HGVS	NC_000008.10:g.87683253delT
CLNSRC
CLNACC	RCV000409440.1,