rs61751402

Orientation

minus

Stabilized

minus

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

Make rs61751402(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

94029515

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61751402
dbSNP (classic)	rs61751402
ClinGen	rs61751402
ebi	rs61751402
HLI	rs61751402
Exac	rs61751402
Gnomad	rs61751402
Varsome	rs61751402
LitVar	rs61751402
Map	rs61751402
PheGenI	rs61751402
Biobank	rs61751402
1000 genomes	rs61751402
hgdp	rs61751402
ensembl	rs61751402
geneview	rs61751402
scholar	rs61751402
google	rs61751402
pharmgkb	rs61751402
gwascentral	rs61751402
openSNP	rs61751402
23andMe	rs61751402
SNPshot	rs61751402
SNPdbe	rs61751402
MSV3d	rs61751402
GWAS Ctlg	rs61751402

Max Magnitude

3

ClinVar
Risk	rs61751402(A;A)
Alt	rs61751402(A;A)
Reference	Rs61751402(G;G)
Significance	Pathogenic
Disease	not provided Stargardt disease 1 Retinal dystrophy
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1 Retinal dystrophy
Reversed	1
HGVS	NC_000001.10:g.94495071C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085641.2, RCV000177442.3, RCV000210300.1,