rs200692438

Orientation

plus

Stabilized

plus

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

Make rs200692438(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

94060733

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs200692438
dbSNP (classic)	rs200692438
ClinGen	rs200692438
ebi	rs200692438
HLI	rs200692438
Exac	rs200692438
Gnomad	rs200692438
Varsome	rs200692438
LitVar	rs200692438
Map	rs200692438
PheGenI	rs200692438
Biobank	rs200692438
1000 genomes	rs200692438
hgdp	rs200692438
ensembl	rs200692438
geneview	rs200692438
scholar	rs200692438
google	rs200692438
pharmgkb	rs200692438
gwascentral	rs200692438
openSNP	rs200692438
23andMe	rs200692438
SNPshot	rs200692438
SNPdbe	rs200692438
MSV3d	rs200692438
GWAS Ctlg	rs200692438

Max Magnitude

3

ClinVar
Risk	rs200692438(C;C)
Alt	rs200692438(C;C)
Reference	Rs200692438(A;A)
Significance	Probable-Pathogenic
Disease	Cone-rod dystrophy 3 Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	Cone-rod dystrophy 3 Stargardt disease 1
Reversed	0
HGVS	NC_000001.10:g.94526289A>C
CLNSRC
CLNACC	RCV000194199.1, RCV000408459.1,