rs61750120

Orientation

minus

Stabilized

minus

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

Make rs61750120(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94042767

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61750120
dbSNP (classic)	rs61750120
ClinGen	rs61750120
ebi	rs61750120
HLI	rs61750120
Exac	rs61750120
Gnomad	rs61750120
Varsome	rs61750120
LitVar	rs61750120
Map	rs61750120
PheGenI	rs61750120
Biobank	rs61750120
1000 genomes	rs61750120
hgdp	rs61750120
ensembl	rs61750120
geneview	rs61750120
scholar	rs61750120
google	rs61750120
pharmgkb	rs61750120
gwascentral	rs61750120
openSNP	rs61750120
23andMe	rs61750120
SNPshot	rs61750120
SNPdbe	rs61750120
MSV3d	rs61750120
GWAS Ctlg	rs61750120

GMAF

0.0004591

Max Magnitude

3

ClinVar
Risk	rs61750120(T;T)
Alt	rs61750120(T;T)
Reference	Rs61750120(C;C)
Significance	Other
Disease	not provided Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94508323G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078665.3, RCV000150052.5,