rs145525174

Orientation

plus

Stabilized

plus

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

Make rs145525174(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94063218

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs145525174
dbSNP (classic)	rs145525174
ClinGen	rs145525174
ebi	rs145525174
HLI	rs145525174
Exac	rs145525174
Gnomad	rs145525174
Varsome	rs145525174
LitVar	rs145525174
Map	rs145525174
PheGenI	rs145525174
Biobank	rs145525174
1000 genomes	rs145525174
hgdp	rs145525174
ensembl	rs145525174
geneview	rs145525174
scholar	rs145525174
google	rs145525174
pharmgkb	rs145525174
gwascentral	rs145525174
openSNP	rs145525174
23andMe	rs145525174
SNPshot	rs145525174
SNPdbe	rs145525174
MSV3d	rs145525174
GWAS Ctlg	rs145525174

Max Magnitude

3

ClinVar
Risk	rs145525174(T;T)
Alt	rs145525174(T;T)
Reference	Rs145525174(C;C)
Significance	Probable-Pathogenic
Disease	not specified Stargardt Disease Retinitis Pigmentosa Cone-Rod Dystrophy Macular degeneration Stargardt disease 1 not provided
Variation	info
Gene	ABCA4
CLNDBN	not specified Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt disease 1 not provided
Reversed	0
HGVS	NC_000001.10:g.94528774C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000174239.1, RCV000286087.1, RCV000343411.1, RCV000378123.1, RCV000390005.1, RCV000408576.1, RCV000416079.1,