rs61750200

Orientation

minus

Stabilized

minus

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

Make rs61750200(C;T)

Make rs61750200(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94098928

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61750200
dbSNP (classic)	rs61750200
ClinGen	rs61750200
ebi	rs61750200
HLI	rs61750200
Exac	rs61750200
Gnomad	rs61750200
Varsome	rs61750200
LitVar	rs61750200
Map	rs61750200
PheGenI	rs61750200
Biobank	rs61750200
1000 genomes	rs61750200
hgdp	rs61750200
ensembl	rs61750200
geneview	rs61750200
scholar	rs61750200
google	rs61750200
pharmgkb	rs61750200
gwascentral	rs61750200
openSNP	rs61750200
23andMe	rs61750200
SNPshot	rs61750200
SNPdbe	rs61750200
MSV3d	rs61750200
GWAS Ctlg	rs61750200

Max Magnitude

0

OMIM	601691
Desc
Variant	0020
Related	also

ClinVar
Risk	rs61750200(T;T)
Alt	rs61750200(T;T)
Reference	Rs61750200(C;C)
Significance	Pathogenic
Disease	Stargardt disease 1 not provided Cone-rod dystrophy 3
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 not provided Cone-rod dystrophy 3
Reversed	1
HGVS	NC_000001.10:g.94564484G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008355.5, RCV000085812.2, RCV000179293.1,