rs61748559

Orientation

minus

Stabilized

minus

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

Make rs61748559(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94063157

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61748559
dbSNP (classic)	rs61748559
ClinGen	rs61748559
ebi	rs61748559
HLI	rs61748559
Exac	rs61748559
Gnomad	rs61748559
Varsome	rs61748559
LitVar	rs61748559
Map	rs61748559
PheGenI	rs61748559
Biobank	rs61748559
1000 genomes	rs61748559
hgdp	rs61748559
ensembl	rs61748559
geneview	rs61748559
scholar	rs61748559
google	rs61748559
pharmgkb	rs61748559
gwascentral	rs61748559
openSNP	rs61748559
23andMe	rs61748559
SNPshot	rs61748559
SNPdbe	rs61748559
MSV3d	rs61748559
GWAS Ctlg	rs61748559

Max Magnitude

3

OMIM	601691
Desc
Variant	0022
Related	also

ClinVar
Risk	rs61748559(A;A) rs61748559(C;C)
Alt	rs61748559(A;A) rs61748559(C;C)
Reference	Rs61748559(G;G)
Significance	Other
Disease	not provided Stargardt disease 1 not specified
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1 not specified
Reversed	1
HGVS	NC_000001.10:g.94528713C>G; NC_000001.10:g.94528713C>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000085417.1, RCV000008357.6, RCV000085416.1, RCV000314122.1,