rs61750126

Orientation

minus

Stabilized

minus

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

Make rs61750126(G;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

94040048

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs61750126
dbSNP (classic)	rs61750126
ClinGen	rs61750126
ebi	rs61750126
HLI	rs61750126
Exac	rs61750126
Gnomad	rs61750126
Varsome	rs61750126
LitVar	rs61750126
Map	rs61750126
PheGenI	rs61750126
Biobank	rs61750126
1000 genomes	rs61750126
hgdp	rs61750126
ensembl	rs61750126
geneview	rs61750126
scholar	rs61750126
google	rs61750126
pharmgkb	rs61750126
gwascentral	rs61750126
openSNP	rs61750126
23andMe	rs61750126
SNPshot	rs61750126
SNPdbe	rs61750126
MSV3d	rs61750126
GWAS Ctlg	rs61750126

GMAF

0.02066

Max Magnitude

3

OMIM	601691
Desc
Variant	0025
Related	also

ClinVar
Risk	rs61750126(G;G)
Alt	rs61750126(G;G)
Reference	Rs61750126(T;T)
Significance	Pathogenic
Disease	Cone-rod dystrophy 3 not provided not specified Stargardt Disease Retinitis Pigmentosa Cone-Rod Dystrophy Macular degeneration Stargardt disease 1
Variation	info
Gene	ABCA4
CLNDBN	Cone-rod dystrophy 3 not provided not specified Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt disease 1
Reversed	1
HGVS	NC_000001.10:g.94505604A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008361.2, RCV000085583.1, RCV000176456.1, RCV000308786.1, RCV000340328.1, RCV000343774.1, RCV000401597.1, RCV000408567.1,