rs121909205

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a mutation for Stargardt disease

Make rs121909205(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94120994

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs121909205
dbSNP (classic)	rs121909205
ClinGen	rs121909205
ebi	rs121909205
HLI	rs121909205
Exac	rs121909205
Gnomad	rs121909205
Varsome	rs121909205
LitVar	rs121909205
Map	rs121909205
PheGenI	rs121909205
Biobank	rs121909205
1000 genomes	rs121909205
hgdp	rs121909205
ensembl	rs121909205
geneview	rs121909205
scholar	rs121909205
google	rs121909205
pharmgkb	rs121909205
gwascentral	rs121909205
openSNP	rs121909205
23andMe	rs121909205
SNPshot	rs121909205
SNPdbe	rs121909205
MSV3d	rs121909205
GWAS Ctlg	rs121909205

GMAF

0.0009183

Max Magnitude

3

OMIM	601691
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121909205(A;A) rs121909205(T;T)
Alt	rs121909205(A;A) rs121909205(T;T)
Reference	Rs121909205(C;C)
Significance	Other
Disease	Stargardt disease 1 not provided
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 not provided
Reversed	1
HGVS	NC_000001.10:g.94586550G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008356.4, RCV000085719.1,