rs200967229

Orientation

plus

Stabilized

plus

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

Make rs200967229(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94030427

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs200967229
dbSNP (classic)	rs200967229
ClinGen	rs200967229
ebi	rs200967229
HLI	rs200967229
Exac	rs200967229
Gnomad	rs200967229
Varsome	rs200967229
LitVar	rs200967229
Map	rs200967229
PheGenI	rs200967229
Biobank	rs200967229
1000 genomes	rs200967229
hgdp	rs200967229
ensembl	rs200967229
geneview	rs200967229
scholar	rs200967229
google	rs200967229
pharmgkb	rs200967229
gwascentral	rs200967229
openSNP	rs200967229
23andMe	rs200967229
SNPshot	rs200967229
SNPdbe	rs200967229
MSV3d	rs200967229
GWAS Ctlg	rs200967229

Max Magnitude

3

ClinVar
Risk	rs200967229(T;T)
Alt	rs200967229(T;T)
Reference	Rs200967229(C;C)
Significance	Pathogenic
Disease	Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1
Reversed	0
HGVS	NC_000001.10:g.94495983C>T
CLNSRC
CLNACC	RCV000408571.1,