rs35365413

plus

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

Make rs35365413(A;C)

Make rs35365413(C;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

86628994

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs35365413
dbSNP (classic)	rs35365413
ClinGen	rs35365413
ebi	rs35365413
HLI	rs35365413
Exac	rs35365413
Gnomad	rs35365413
Varsome	rs35365413
LitVar	rs35365413
Map	rs35365413
PheGenI	rs35365413
Biobank	rs35365413
1000 genomes	rs35365413
hgdp	rs35365413
ensembl	rs35365413
geneview	rs35365413
scholar	rs35365413
google	rs35365413
pharmgkb	rs35365413
gwascentral	rs35365413
openSNP	rs35365413
23andMe	rs35365413
SNPshot	rs35365413
SNPdbe	rs35365413
MSV3d	rs35365413
GWAS Ctlg	rs35365413

GMAF

0.001377

Max Magnitude

0

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.[PMID 15712225]

OMIM	605080
Desc
Variant	0006
Related	also

ClinVar
Risk	rs35365413(C;C) rs35365413(T;T)
Alt	rs35365413(C;C) rs35365413(T;T)
Reference	Rs35365413(A;A)
Significance	Pathogenic
Disease	Stargardt disease 1 not specified
Variation	info
Gene	CNGB3
CLNDBN	Stargardt disease 1 not specified
Reversed	0
HGVS	NC_000008.10:g.87641222A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005538.2, RCV000378015.1,