rs61748548

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs61748548(G;G)

Make rs61748548(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94080559

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61748548
dbSNP (classic)	rs61748548
ClinGen	rs61748548
ebi	rs61748548
HLI	rs61748548
Exac	rs61748548
Gnomad	rs61748548
Varsome	rs61748548
LitVar	rs61748548
Map	rs61748548
PheGenI	rs61748548
Biobank	rs61748548
1000 genomes	rs61748548
hgdp	rs61748548
ensembl	rs61748548
geneview	rs61748548
scholar	rs61748548
google	rs61748548
pharmgkb	rs61748548
gwascentral	rs61748548
openSNP	rs61748548
23andMe	rs61748548
SNPshot	rs61748548
SNPdbe	rs61748548
MSV3d	rs61748548
GWAS Ctlg	rs61748548

Max Magnitude

0

OMIM	601691
Desc
Variant	0018
Related	also

ClinVar
Risk	rs61748548(C;C) rs61748548(G;G)
Alt	rs61748548(C;C) rs61748548(G;G)
Reference	Rs61748548(T;T)
Significance	Pathogenic
Disease	Stargardt disease 1 not provided
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 not provided
Reversed	1
HGVS	NC_000001.10:g.94546115A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008353.4, RCV000085368.1,