rs201738997

Orientation

plus

Stabilized

plus

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

Make rs201738997(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94121045

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs201738997
dbSNP (classic)	rs201738997
ClinGen	rs201738997
ebi	rs201738997
HLI	rs201738997
Exac	rs201738997
Gnomad	rs201738997
Varsome	rs201738997
LitVar	rs201738997
Map	rs201738997
PheGenI	rs201738997
Biobank	rs201738997
1000 genomes	rs201738997
hgdp	rs201738997
ensembl	rs201738997
geneview	rs201738997
scholar	rs201738997
google	rs201738997
pharmgkb	rs201738997
gwascentral	rs201738997
openSNP	rs201738997
23andMe	rs201738997
SNPshot	rs201738997
SNPdbe	rs201738997
MSV3d	rs201738997
GWAS Ctlg	rs201738997

Max Magnitude

3

ClinVar
Risk	rs201738997(C;C)
Alt	rs201738997(C;C)
Reference	Rs201738997(T;T)
Significance	Pathogenic
Disease	not provided Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1
Reversed	0
HGVS	NC_000001.10:g.94586601T>C
CLNSRC
CLNACC	RCV000085454.2, RCV000408483.1, RCV000408532.1,