rs61750135

Orientation

minus

Stabilized

minus

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

Make rs61750135(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

94031027

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61750135
dbSNP (classic)	rs61750135
ClinGen	rs61750135
ebi	rs61750135
HLI	rs61750135
Exac	rs61750135
Gnomad	rs61750135
Varsome	rs61750135
LitVar	rs61750135
Map	rs61750135
PheGenI	rs61750135
Biobank	rs61750135
1000 genomes	rs61750135
hgdp	rs61750135
ensembl	rs61750135
geneview	rs61750135
scholar	rs61750135
google	rs61750135
pharmgkb	rs61750135
gwascentral	rs61750135
openSNP	rs61750135
23andMe	rs61750135
SNPshot	rs61750135
SNPdbe	rs61750135
MSV3d	rs61750135
GWAS Ctlg	rs61750135

Max Magnitude

3

ClinVar
Risk	rs61750135(C;C)
Alt	rs61750135(C;C)
Reference	Rs61750135(T;T)
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.94496583A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085613.2, RCV000210333.1, RCV000368816.1, RCV000408501.1,