rs1801269

Orientation

minus

Stabilized

minus

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

Make rs1801269(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94041345

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1801269
dbSNP (classic)	rs1801269
ClinGen	rs1801269
ebi	rs1801269
HLI	rs1801269
Exac	rs1801269
Gnomad	rs1801269
Varsome	rs1801269
LitVar	rs1801269
Map	rs1801269
PheGenI	rs1801269
Biobank	rs1801269
1000 genomes	rs1801269
hgdp	rs1801269
ensembl	rs1801269
geneview	rs1801269
scholar	rs1801269
google	rs1801269
pharmgkb	rs1801269
gwascentral	rs1801269
openSNP	rs1801269
23andMe	rs1801269
SNPshot	rs1801269
SNPdbe	rs1801269
MSV3d	rs1801269
GWAS Ctlg	rs1801269

Max Magnitude

3

ClinVar
Risk	rs1801269(T;T)
Alt	rs1801269(T;T)
Reference	Rs1801269(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.94506901C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085576.1, RCV000408578.1,