rs61750130

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs61750130(C;T)

Make rs61750130(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94031110

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61750130
dbSNP (classic)	rs61750130
ClinGen	rs61750130
ebi	rs61750130
HLI	rs61750130
Exac	rs61750130
Gnomad	rs61750130
Varsome	rs61750130
LitVar	rs61750130
Map	rs61750130
PheGenI	rs61750130
Biobank	rs61750130
1000 genomes	rs61750130
hgdp	rs61750130
ensembl	rs61750130
geneview	rs61750130
scholar	rs61750130
google	rs61750130
pharmgkb	rs61750130
gwascentral	rs61750130
openSNP	rs61750130
23andMe	rs61750130
SNPshot	rs61750130
SNPdbe	rs61750130
MSV3d	rs61750130
GWAS Ctlg	rs61750130

Max Magnitude

0

OMIM	601691
Desc
Variant	0026
Related	also

ClinVar
Risk	rs61750130(T;T)
Alt	rs61750130(T;T)
Reference	Rs61750130(C;C)
Significance	Other
Disease	Stargardt disease 1 MACULAR DEGENERATION not provided Mandibulofacial dysostosis with mental deficiency
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO not provided Mandibulofacial dysostosis with mental deficiency
Reversed	1
HGVS	NC_000001.10:g.94496666G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008362.6, RCV000023139.4, RCV000078666.4, RCV000454310.1,