rs104893619

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of an achromatopsia 2 mutation
(G;G)	0	common in clinvar

Make rs104893619(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

98396755

Gene

CNGA3

is a	snp
is	mentioned by
dbSNP	rs104893619
dbSNP (classic)	rs104893619
ClinGen	rs104893619
ebi	rs104893619
HLI	rs104893619
Exac	rs104893619
Gnomad	rs104893619
Varsome	rs104893619
LitVar	rs104893619
Map	rs104893619
PheGenI	rs104893619
Biobank	rs104893619
1000 genomes	rs104893619
hgdp	rs104893619
ensembl	rs104893619
geneview	rs104893619
scholar	rs104893619
google	rs104893619
pharmgkb	rs104893619
gwascentral	rs104893619
openSNP	rs104893619
23andMe	rs104893619
SNPshot	rs104893619
SNPdbe	rs104893619
MSV3d	rs104893619
GWAS Ctlg	rs104893619

Max Magnitude

3

aka c.1585G>A (p.Val529Met or V529M)

OMIM cites a publication indicating this is a recurrent mutation stratified by a Jewish-Muslim founder effect.

OMIM	600053
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104893619(A;A)
Alt	rs104893619(A;A)
Reference	Rs104893619(G;G)
Significance	Pathogenic
Disease	Achromatopsia 2 not provided
Variation	info
Gene	CNGA3
CLNDBN	Achromatopsia 2 not provided
Reversed	0
HGVS	NC_000002.11:g.99013218G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010088.4, RCV000352391.1,