rs104893617

Orientation

plus

Stabilized

plus

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

Make rs104893617(A;A)

Make rs104893617(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

98396811

Gene

CNGA3

is a	snp
is	mentioned by
dbSNP	rs104893617
dbSNP (classic)	rs104893617
ClinGen	rs104893617
ebi	rs104893617
HLI	rs104893617
Exac	rs104893617
Gnomad	rs104893617
Varsome	rs104893617
LitVar	rs104893617
Map	rs104893617
PheGenI	rs104893617
Biobank	rs104893617
1000 genomes	rs104893617
hgdp	rs104893617
ensembl	rs104893617
geneview	rs104893617
scholar	rs104893617
google	rs104893617
pharmgkb	rs104893617
gwascentral	rs104893617
openSNP	rs104893617
23andMe	rs104893617
SNPshot	rs104893617
SNPdbe	rs104893617
MSV3d	rs104893617
GWAS Ctlg	rs104893617

Max Magnitude

0

OMIM	600053
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893617(A;A) rs104893617(T;T)
Alt	rs104893617(A;A) rs104893617(T;T)
Reference	Rs104893617(C;C)
Significance	Pathogenic
Disease	Achromatopsia 2 Monochromacy
Variation	info
Gene	CNGA3
CLNDBN	Achromatopsia 2 Monochromacy
Reversed	0
HGVS	NC_000002.11:g.99013274C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010086.5, RCV000415000.1,