rs61751408

Orientation

minus

Stabilized

minus

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

Make rs61751408(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94005509

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61751408
dbSNP (classic)	rs61751408
ClinGen	rs61751408
ebi	rs61751408
HLI	rs61751408
Exac	rs61751408
Gnomad	rs61751408
Varsome	rs61751408
LitVar	rs61751408
Map	rs61751408
PheGenI	rs61751408
Biobank	rs61751408
1000 genomes	rs61751408
hgdp	rs61751408
ensembl	rs61751408
geneview	rs61751408
scholar	rs61751408
google	rs61751408
pharmgkb	rs61751408
gwascentral	rs61751408
openSNP	rs61751408
23andMe	rs61751408
SNPshot	rs61751408
SNPdbe	rs61751408
MSV3d	rs61751408
GWAS Ctlg	rs61751408

GMAF

0.0004591

Max Magnitude

3

OMIM	601691
Desc
Variant	0004
Related	also

ClinVar
Risk	rs61751408(T;T)
Alt	rs61751408(T;T)
Reference	Rs61751408(C;C)
Significance	Pathogenic
Disease	Stargardt disease 1 Cone-rod dystrophy 3 not provided
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 Cone-rod dystrophy 3 not provided
Reversed	1
HGVS	NC_000001.10:g.94471065G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008332.6, RCV000008333.5, RCV000085785.2,