rs61751404

Orientation

minus

Stabilized

minus

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

Make rs61751404(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

94021340

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61751404
dbSNP (classic)	rs61751404
ClinGen	rs61751404
ebi	rs61751404
HLI	rs61751404
Exac	rs61751404
Gnomad	rs61751404
Varsome	rs61751404
LitVar	rs61751404
Map	rs61751404
PheGenI	rs61751404
Biobank	rs61751404
1000 genomes	rs61751404
hgdp	rs61751404
ensembl	rs61751404
geneview	rs61751404
scholar	rs61751404
google	rs61751404
pharmgkb	rs61751404
gwascentral	rs61751404
openSNP	rs61751404
23andMe	rs61751404
SNPshot	rs61751404
SNPdbe	rs61751404
MSV3d	rs61751404
GWAS Ctlg	rs61751404

Max Magnitude

3

ClinVar
Risk	rs61751404(T;T)
Alt	rs61751404(T;T)
Reference	Rs61751404(C;C)
Significance	Pathogenic
Disease	not provided Retinal dystrophy not specified Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	not provided Retinal dystrophy not specified Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94486896G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085683.2, RCV000210311.1, RCV000315553.1, RCV000408519.1,