rs748993388

Orientation

plus

Stabilized

plus

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

Make rs748993388(-;A)

Make rs748993388(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

86670990

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs748993388
dbSNP (classic)	rs748993388
ClinGen	rs748993388
ebi	rs748993388
HLI	rs748993388
Exac	rs748993388
Gnomad	rs748993388
Varsome	rs748993388
LitVar	rs748993388
Map	rs748993388
PheGenI	rs748993388
Biobank	rs748993388
1000 genomes	rs748993388
hgdp	rs748993388
ensembl	rs748993388
geneview	rs748993388
scholar	rs748993388
google	rs748993388
pharmgkb	rs748993388
gwascentral	rs748993388
openSNP	rs748993388
23andMe	rs748993388
SNPshot	rs748993388
SNPdbe	rs748993388
MSV3d	rs748993388
GWAS Ctlg	rs748993388

Max Magnitude

0

ClinVar
Risk	rs748993388(A;A)
Alt	rs748993388(A;A)
Reference	Rs748993388(-;-)
Significance	Probable-Pathogenic
Disease	Achromatopsia 3
Variation	info
Gene	CNGB3
CLNDBN	Achromatopsia 3
Reversed	0
HGVS	NC_000008.10:g.87683218_87683219insA
CLNSRC
CLNACC	RCV000411864.1,