rs104893614

Orientation

plus

Stabilized

plus

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

Make rs104893614(A;A)

Make rs104893614(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

98396018

Gene

CNGA3

is a	snp
is	mentioned by
dbSNP	rs104893614
dbSNP (classic)	rs104893614
ClinGen	rs104893614
ebi	rs104893614
HLI	rs104893614
Exac	rs104893614
Gnomad	rs104893614
Varsome	rs104893614
LitVar	rs104893614
Map	rs104893614
PheGenI	rs104893614
Biobank	rs104893614
1000 genomes	rs104893614
hgdp	rs104893614
ensembl	rs104893614
geneview	rs104893614
scholar	rs104893614
google	rs104893614
pharmgkb	rs104893614
gwascentral	rs104893614
openSNP	rs104893614
23andMe	rs104893614
SNPshot	rs104893614
SNPdbe	rs104893614
MSV3d	rs104893614
GWAS Ctlg	rs104893614

Max Magnitude

0

OMIM	600053
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893614(A;A)
Alt	rs104893614(A;A)
Reference	Rs104893614(G;G)
Significance	Pathogenic
Disease	Achromatopsia 2
Variation	info
Gene	CNGA3
CLNDBN	Achromatopsia 2
Reversed	0
HGVS	NC_000002.11:g.99012481G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010083.4,