rs61748550

Orientation

minus

Stabilized

minus

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

Make rs61748550(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

94079339

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61748550
dbSNP (classic)	rs61748550
ClinGen	rs61748550
ebi	rs61748550
HLI	rs61748550
Exac	rs61748550
Gnomad	rs61748550
Varsome	rs61748550
LitVar	rs61748550
Map	rs61748550
PheGenI	rs61748550
Biobank	rs61748550
1000 genomes	rs61748550
hgdp	rs61748550
ensembl	rs61748550
geneview	rs61748550
scholar	rs61748550
google	rs61748550
pharmgkb	rs61748550
gwascentral	rs61748550
openSNP	rs61748550
23andMe	rs61748550
SNPshot	rs61748550
SNPdbe	rs61748550
MSV3d	rs61748550
GWAS Ctlg	rs61748550

Max Magnitude

3

ClinVar
Risk	rs61748550(T;T)
Alt	rs61748550(T;T)
Reference	Rs61748550(C;C)
Significance	Pathogenic
Disease	not provided Stargardt disease 1 Retinitis pigmentosa 19 Age-related macular degeneration 2 Cone-rod dystrophy 3
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1 Retinitis pigmentosa 19 Age-related macular degeneration 2 Cone-rod dystrophy 3
Reversed	1
HGVS	NC_000001.10:g.94544895G>A
CLNSRC	HGMD
CLNACC	RCV000085378.2, RCV000152707.5, RCV000152708.4, RCV000152709.4, RCV000152710.4,