rs113106943

Orientation

plus

Stabilized

plus

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

Make rs113106943(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

94021848

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs113106943
dbSNP (classic)	rs113106943
ClinGen	rs113106943
ebi	rs113106943
HLI	rs113106943
Exac	rs113106943
Gnomad	rs113106943
Varsome	rs113106943
LitVar	rs113106943
Map	rs113106943
PheGenI	rs113106943
Biobank	rs113106943
1000 genomes	rs113106943
hgdp	rs113106943
ensembl	rs113106943
geneview	rs113106943
scholar	rs113106943
google	rs113106943
pharmgkb	rs113106943
gwascentral	rs113106943
openSNP	rs113106943
23andMe	rs113106943
SNPshot	rs113106943
SNPdbe	rs113106943
MSV3d	rs113106943
GWAS Ctlg	rs113106943

Max Magnitude

3

ClinVar
Risk	rs113106943(T;T)
Alt	rs113106943(T;T)
Reference	Rs113106943(C;C)
Significance	Probable-Pathogenic
Disease	not specified Retinitis Pigmentosa Stargardt Disease Macular degeneration Cone-Rod Dystrophy Stargardt disease 1 not provided
Variation	info
Gene	ABCA4
CLNDBN	not specified Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Stargardt disease 1 not provided
Reversed	0
HGVS	NC_000001.10:g.94487404C>T
CLNSRC	Illumina
CLNACC	RCV000152705.3, RCV000285181.1, RCV000323858.1, RCV000376503.1, RCV000381856.1, RCV000408525.1, RCV000416254.1,