rs1800728

Orientation

minus

Stabilized

minus

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

Make rs1800728(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

94011395

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1800728
dbSNP (classic)	rs1800728
ClinGen	rs1800728
ebi	rs1800728
HLI	rs1800728
Exac	rs1800728
Gnomad	rs1800728
Varsome	rs1800728
LitVar	rs1800728
Map	rs1800728
PheGenI	rs1800728
Biobank	rs1800728
1000 genomes	rs1800728
hgdp	rs1800728
ensembl	rs1800728
geneview	rs1800728
scholar	rs1800728
google	rs1800728
pharmgkb	rs1800728
gwascentral	rs1800728
openSNP	rs1800728
23andMe	rs1800728
SNPshot	rs1800728
SNPdbe	rs1800728
MSV3d	rs1800728
GWAS Ctlg	rs1800728

Max Magnitude

3

ClinVar
Risk	rs1800728(C;C)
Alt	rs1800728(C;C)
Reference	Rs1800728(T;T)
Significance	Other
Disease	Cone-rod dystrophy 3 not provided Stargardt disease 1 Bull's eye maculopathy Retinal dystrophy not specified
Variation	info
Gene	ABCA4
CLNDBN	Cone-rod dystrophy 3 not provided Stargardt disease 1 Bull's eye maculopathy Retinal dystrophy not specified
Reversed	1
HGVS	NC_000001.10:g.94476951A>G
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000008366.3, RCV000078669.4, RCV000177965.3, RCV000210325.1, RCV000210327.1, RCV000255513.2,