rs104893612

Orientation

plus

Stabilized

plus

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

Make rs104893612(C;T)

Make rs104893612(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

98389696

Gene

CNGA3

is a	snp
is	mentioned by
dbSNP	rs104893612
dbSNP (classic)	rs104893612
ClinGen	rs104893612
ebi	rs104893612
HLI	rs104893612
Exac	rs104893612
Gnomad	rs104893612
Varsome	rs104893612
LitVar	rs104893612
Map	rs104893612
PheGenI	rs104893612
Biobank	rs104893612
1000 genomes	rs104893612
hgdp	rs104893612
ensembl	rs104893612
geneview	rs104893612
scholar	rs104893612
google	rs104893612
pharmgkb	rs104893612
gwascentral	rs104893612
openSNP	rs104893612
23andMe	rs104893612
SNPshot	rs104893612
SNPdbe	rs104893612
MSV3d	rs104893612
GWAS Ctlg	rs104893612

Max Magnitude

0

OMIM	600053
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893612(T;T)
Alt	rs104893612(T;T)
Reference	Rs104893612(C;C)
Significance	Pathogenic
Disease	Achromatopsia 2
Variation	info
Gene	CNGA3
CLNDBN	Achromatopsia 2
Reversed	0
HGVS	NC_000002.11:g.99006159C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010081.6,