rs104893621

Orientation

plus

Stabilized

plus

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

Make rs104893621(C;T)

Make rs104893621(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

98396476

Gene

CNGA3

is a	snp
is	mentioned by
dbSNP	rs104893621
dbSNP (classic)	rs104893621
ClinGen	rs104893621
ebi	rs104893621
HLI	rs104893621
Exac	rs104893621
Gnomad	rs104893621
Varsome	rs104893621
LitVar	rs104893621
Map	rs104893621
PheGenI	rs104893621
Biobank	rs104893621
1000 genomes	rs104893621
hgdp	rs104893621
ensembl	rs104893621
geneview	rs104893621
scholar	rs104893621
google	rs104893621
pharmgkb	rs104893621
gwascentral	rs104893621
openSNP	rs104893621
23andMe	rs104893621
SNPshot	rs104893621
SNPdbe	rs104893621
MSV3d	rs104893621
GWAS Ctlg	rs104893621

Max Magnitude

0

OMIM	600053
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104893621(T;T)
Alt	rs104893621(T;T)
Reference	Rs104893621(C;C)
Significance	Pathogenic
Disease	Achromatopsia 2
Variation	info
Gene	CNGA3
CLNDBN	Achromatopsia 2
Reversed	0
HGVS	NC_000002.11:g.99012939C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010090.4,