rs121909206

Orientation

minus

Stabilized

minus

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

Make rs121909206(A;A)

Make rs121909206(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94015766

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs121909206
dbSNP (classic)	rs121909206
ClinGen	rs121909206
ebi	rs121909206
HLI	rs121909206
Exac	rs121909206
Gnomad	rs121909206
Varsome	rs121909206
LitVar	rs121909206
Map	rs121909206
PheGenI	rs121909206
Biobank	rs121909206
1000 genomes	rs121909206
hgdp	rs121909206
ensembl	rs121909206
geneview	rs121909206
scholar	rs121909206
google	rs121909206
pharmgkb	rs121909206
gwascentral	rs121909206
openSNP	rs121909206
23andMe	rs121909206
SNPshot	rs121909206
SNPdbe	rs121909206
MSV3d	rs121909206
GWAS Ctlg	rs121909206

Max Magnitude

0

OMIM	601691
Desc
Variant	0031
Related	also

ClinVar
Risk	rs121909206(A;A)
Alt	rs121909206(A;A)
Reference	Rs121909206(C;C)
Significance	Pathogenic
Disease	Cone-rod dystrophy 3 Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	Cone-rod dystrophy 3 Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94481322G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008367.2, RCV000008368.4,