rs58331765

Orientation

plus

Stabilized

plus

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

Make rs58331765(C;T)

Make rs58331765(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94047046

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs58331765
dbSNP (classic)	rs58331765
ClinGen	rs58331765
ebi	rs58331765
HLI	rs58331765
Exac	rs58331765
Gnomad	rs58331765
Varsome	rs58331765
LitVar	rs58331765
Map	rs58331765
PheGenI	rs58331765
Biobank	rs58331765
1000 genomes	rs58331765
hgdp	rs58331765
ensembl	rs58331765
geneview	rs58331765
scholar	rs58331765
google	rs58331765
pharmgkb	rs58331765
gwascentral	rs58331765
openSNP	rs58331765
23andMe	rs58331765
SNPshot	rs58331765
SNPdbe	rs58331765
MSV3d	rs58331765
GWAS Ctlg	rs58331765

GMAF

0.005051

Max Magnitude

0

OMIM	601691
Desc
Variant	0002
Related	also

ClinVar
Risk	rs58331765(A;A) rs58331765(T;T)
Alt	rs58331765(A;A) rs58331765(T;T)
Reference	Rs58331765(C;C)
Significance	Pathogenic
Disease	Stargardt disease 1 not provided Retinitis Pigmentosa Stargardt Disease Macular degeneration Cone-Rod Dystrophy
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 not provided Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive
Reversed	0
HGVS	NC_000001.10:g.94512602C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008330.4, RCV000085506.1, RCV000308729.1, RCV000314132.1, RCV000364229.1, RCV000392935.1,