rs1762111

Orientation

minus

Stabilized

minus

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

Make rs1762111(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94021934

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1762111
dbSNP (classic)	rs1762111
ClinGen	rs1762111
ebi	rs1762111
HLI	rs1762111
Exac	rs1762111
Gnomad	rs1762111
Varsome	rs1762111
LitVar	rs1762111
Map	rs1762111
PheGenI	rs1762111
Biobank	rs1762111
1000 genomes	rs1762111
hgdp	rs1762111
ensembl	rs1762111
geneview	rs1762111
scholar	rs1762111
google	rs1762111
pharmgkb	rs1762111
gwascentral	rs1762111
openSNP	rs1762111
23andMe	rs1762111
SNPshot	rs1762111
SNPdbe	rs1762111
MSV3d	rs1762111
GWAS Ctlg	rs1762111

Max Magnitude

3

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs1762111(C;C)
Alt	rs1762111(C;C)
Reference	Rs1762111(T;T)
Significance	Pathogenic
Disease	not provided not specified ABCA4-Related Disorders Cone-Rod Dystrophy Retinitis Pigmentosa Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	not provided not specified ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94487490A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085664.1, RCV000254911.2, RCV000314956.1, RCV000335992.1, RCV000407014.1, RCV000408556.1,