rs1800552

Orientation

minus

Stabilized

minus

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

Make rs1800552(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94010821

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1800552
dbSNP (classic)	rs1800552
ClinGen	rs1800552
ebi	rs1800552
HLI	rs1800552
Exac	rs1800552
Gnomad	rs1800552
Varsome	rs1800552
LitVar	rs1800552
Map	rs1800552
PheGenI	rs1800552
Biobank	rs1800552
1000 genomes	rs1800552
hgdp	rs1800552
ensembl	rs1800552
geneview	rs1800552
scholar	rs1800552
google	rs1800552
pharmgkb	rs1800552
gwascentral	rs1800552
openSNP	rs1800552
23andMe	rs1800552
SNPshot	rs1800552
SNPdbe	rs1800552
MSV3d	rs1800552
GWAS Ctlg	rs1800552

Max Magnitude

3

ClinVar
Risk	rs1800552(A;A)
Alt	rs1800552(A;A)
Reference	Rs1800552(G;G)
Significance	Probable-Pathogenic
Disease	not provided Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94476377C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085752.1, RCV000408593.1,