rs104893616

Orientation

plus

Stabilized

plus

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

Make rs104893616(C;G)

Make rs104893616(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

98396042

Gene

CNGA3

is a	snp
is	mentioned by
dbSNP	rs104893616
dbSNP (classic)	rs104893616
ClinGen	rs104893616
ebi	rs104893616
HLI	rs104893616
Exac	rs104893616
Gnomad	rs104893616
Varsome	rs104893616
LitVar	rs104893616
Map	rs104893616
PheGenI	rs104893616
Biobank	rs104893616
1000 genomes	rs104893616
hgdp	rs104893616
ensembl	rs104893616
geneview	rs104893616
scholar	rs104893616
google	rs104893616
pharmgkb	rs104893616
gwascentral	rs104893616
openSNP	rs104893616
23andMe	rs104893616
SNPshot	rs104893616
SNPdbe	rs104893616
MSV3d	rs104893616
GWAS Ctlg	rs104893616

Max Magnitude

0

OMIM	600053
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893616(G;G)
Alt	rs104893616(G;G)
Reference	Rs104893616(C;C)
Significance	Pathogenic
Disease	Achromatopsia 2
Variation	info
Gene	CNGA3
CLNDBN	Achromatopsia 2
Reversed	0
HGVS	NC_000002.11:g.99012505C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010085.4,