rs142253670

Orientation

plus

Stabilized

plus

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

Make rs142253670(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94008252

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs142253670
dbSNP (classic)	rs142253670
ClinGen	rs142253670
ebi	rs142253670
HLI	rs142253670
Exac	rs142253670
Gnomad	rs142253670
Varsome	rs142253670
LitVar	rs142253670
Map	rs142253670
PheGenI	rs142253670
Biobank	rs142253670
1000 genomes	rs142253670
hgdp	rs142253670
ensembl	rs142253670
geneview	rs142253670
scholar	rs142253670
google	rs142253670
pharmgkb	rs142253670
gwascentral	rs142253670
openSNP	rs142253670
23andMe	rs142253670
SNPshot	rs142253670
SNPdbe	rs142253670
MSV3d	rs142253670
GWAS Ctlg	rs142253670

Max Magnitude

3

ClinVar
Risk	rs142253670(T;T)
Alt	rs142253670(T;T)
Reference	Rs142253670(C;C)
Significance	Probable-Pathogenic
Disease	Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1
Reversed	0
HGVS	NC_000001.10:g.94473808C>T
CLNSRC
CLNACC	RCV000408510.1,