rs1047376

Orientation

minus

Stabilized

minus

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

Make rs1047376(A;A)

Make rs1047376(A;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94041354

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1047376
dbSNP (classic)	rs1047376
ClinGen	rs1047376
ebi	rs1047376
HLI	rs1047376
Exac	rs1047376
Gnomad	rs1047376
Varsome	rs1047376
LitVar	rs1047376
Map	rs1047376
PheGenI	rs1047376
Biobank	rs1047376
1000 genomes	rs1047376
hgdp	rs1047376
ensembl	rs1047376
geneview	rs1047376
scholar	rs1047376
google	rs1047376
pharmgkb	rs1047376
gwascentral	rs1047376
openSNP	rs1047376
23andMe	rs1047376
SNPshot	rs1047376
SNPdbe	rs1047376
MSV3d	rs1047376
GWAS Ctlg	rs1047376

Max Magnitude

3

?	(A;A) (A;T) (T;T)	28

ClinVar
Risk	rs1047376(A;A) rs1047376(C;C)
Alt	rs1047376(A;A) rs1047376(C;C)
Reference	Rs1047376(T;T)
Significance	Probable-Pathogenic
Disease	Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94506910A>G
CLNSRC
CLNACC	RCV000408515.1,