rs1800553

Orientation

minus

Stabilized

minus

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

Make rs1800553(A;A)

Reference

GRCh38 38.1/142

Chromosome

1

Position

94008251

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1800553
dbSNP (classic)	rs1800553
ClinGen	rs1800553
ebi	rs1800553
HLI	rs1800553
Exac	rs1800553
Gnomad	rs1800553
Varsome	rs1800553
LitVar	rs1800553
Map	rs1800553
PheGenI	rs1800553
Biobank	rs1800553
1000 genomes	rs1800553
hgdp	rs1800553
ensembl	rs1800553
geneview	rs1800553
scholar	rs1800553
google	rs1800553
pharmgkb	rs1800553
gwascentral	rs1800553
openSNP	rs1800553
23andMe	rs1800553
SNPshot	rs1800553
SNPdbe	rs1800553
MSV3d	rs1800553
GWAS Ctlg	rs1800553

GMAF

0.002296

Max Magnitude

3

OMIM	601691
Desc
Variant	0007
Related	also

ClinVar
Risk	rs1800553(A;A)
Alt	rs1800553(A;A)
Reference	Rs1800553(G;G)
Significance	Other
Disease	MACULAR DEGENERATION Stargardt disease 1 Cone-rod dystrophy 3 not provided ABCA4-Related Disorders
Variation	info
Gene	ABCA4
CLNDBN	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Stargardt disease 1 Cone-rod dystrophy 3 not provided ABCA4-Related Disorders
Reversed	1
HGVS	NC_000001.10:g.94473807C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008339.4, RCV000008340.12, RCV000008341.4, RCV000078670.5, RCV000197749.1, RCV000273328.1,