rs62654397

Orientation

minus

Stabilized

minus

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

Make rs62654397(C;T)

Make rs62654397(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94111537

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs62654397
dbSNP (classic)	rs62654397
ClinGen	rs62654397
ebi	rs62654397
HLI	rs62654397
Exac	rs62654397
Gnomad	rs62654397
Varsome	rs62654397
LitVar	rs62654397
Map	rs62654397
PheGenI	rs62654397
Biobank	rs62654397
1000 genomes	rs62654397
hgdp	rs62654397
ensembl	rs62654397
geneview	rs62654397
scholar	rs62654397
google	rs62654397
pharmgkb	rs62654397
gwascentral	rs62654397
openSNP	rs62654397
23andMe	rs62654397
SNPshot	rs62654397
SNPdbe	rs62654397
MSV3d	rs62654397
GWAS Ctlg	rs62654397

Max Magnitude

3

ClinVar
Risk	rs62654397(G;G) rs62654397(T;T)
Alt	rs62654397(G;G) rs62654397(T;T)
Reference	Rs62654397(C;C)
Significance	Probable-Pathogenic
Disease	not provided Abnormality of the macula Peripheral neuropathy Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	not provided Abnormality of the macula Peripheral neuropathy Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94577093G>A; NC_000001.10:g.94577093G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085457.1, RCV000414796.1, RCV000085456.1, RCV000408449.1,