rs61749420

Orientation

minus

Stabilized

minus

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

Make rs61749420(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94060740

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61749420
dbSNP (classic)	rs61749420
ClinGen	rs61749420
ebi	rs61749420
HLI	rs61749420
Exac	rs61749420
Gnomad	rs61749420
Varsome	rs61749420
LitVar	rs61749420
Map	rs61749420
PheGenI	rs61749420
Biobank	rs61749420
1000 genomes	rs61749420
hgdp	rs61749420
ensembl	rs61749420
geneview	rs61749420
scholar	rs61749420
google	rs61749420
pharmgkb	rs61749420
gwascentral	rs61749420
openSNP	rs61749420
23andMe	rs61749420
SNPshot	rs61749420
SNPdbe	rs61749420
MSV3d	rs61749420
GWAS Ctlg	rs61749420

Max Magnitude

3

ClinVar
Risk	rs61749420(T;T)
Alt	rs61749420(T;T)
Reference	Rs61749420(C;C)
Significance	Probable-Pathogenic
Disease	not provided Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94526296G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085452.1, RCV000408546.1,