rs150774447

Orientation

plus

Stabilized

plus

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

Make rs150774447(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

94111579

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs150774447
dbSNP (classic)	rs150774447
ClinGen	rs150774447
ebi	rs150774447
HLI	rs150774447
Exac	rs150774447
Gnomad	rs150774447
Varsome	rs150774447
LitVar	rs150774447
Map	rs150774447
PheGenI	rs150774447
Biobank	rs150774447
1000 genomes	rs150774447
hgdp	rs150774447
ensembl	rs150774447
geneview	rs150774447
scholar	rs150774447
google	rs150774447
pharmgkb	rs150774447
gwascentral	rs150774447
openSNP	rs150774447
23andMe	rs150774447
SNPshot	rs150774447
SNPdbe	rs150774447
MSV3d	rs150774447
GWAS Ctlg	rs150774447

Max Magnitude

3

ClinVar
Risk	rs150774447(A;A) rs150774447(T;T)
Alt	rs150774447(A;A) rs150774447(T;T)
Reference	Rs150774447(C;C)
Significance	Other
Disease	not provided Stargardt disease 1 Retinitis pigmentosa 19 Cone-rod dystrophy 3
Variation	info
Gene	ABCA4
CLNDBN	not provided Stargardt disease 1 Retinitis pigmentosa 19 Cone-rod dystrophy 3
Reversed	0
HGVS	NC_000001.10:g.94577135C>A; NC_000001.10:g.94577135C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085409.1, RCV000132585.1, RCV000085408.2, RCV000210980.3, RCV000335021.1, RCV000401237.1,