rs104893613

Orientation

plus

Stabilized

plus

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

Make rs104893613(C;T)

Make rs104893613(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

98396017

Gene

CNGA3

is a	snp
is	mentioned by
dbSNP	rs104893613
dbSNP (classic)	rs104893613
ClinGen	rs104893613
ebi	rs104893613
HLI	rs104893613
Exac	rs104893613
Gnomad	rs104893613
Varsome	rs104893613
LitVar	rs104893613
Map	rs104893613
PheGenI	rs104893613
Biobank	rs104893613
1000 genomes	rs104893613
hgdp	rs104893613
ensembl	rs104893613
geneview	rs104893613
scholar	rs104893613
google	rs104893613
pharmgkb	rs104893613
gwascentral	rs104893613
openSNP	rs104893613
23andMe	rs104893613
SNPshot	rs104893613
SNPdbe	rs104893613
MSV3d	rs104893613
GWAS Ctlg	rs104893613

Max Magnitude

0

OMIM	600053
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893613(T;T)
Alt	rs104893613(T;T)
Reference	Rs104893613(C;C)
Significance	Pathogenic
Disease	Achromatopsia 2 Monochromacy
Variation	info
Gene	CNGA3
CLNDBN	Achromatopsia 2 Monochromacy
Reversed	0
HGVS	NC_000002.11:g.99012480C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010082.4, RCV000415133.1,