rs3112831

Orientation

minus

Stabilized

minus

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

Make rs3112831(A;G)

Make rs3112831(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94078678

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs3112831
dbSNP (classic)	rs3112831
ClinGen	rs3112831
ebi	rs3112831
HLI	rs3112831
Exac	rs3112831
Gnomad	rs3112831
Varsome	rs3112831
LitVar	rs3112831
Map	rs3112831
PheGenI	rs3112831
Biobank	rs3112831
1000 genomes	rs3112831
hgdp	rs3112831
ensembl	rs3112831
geneview	rs3112831
scholar	rs3112831
google	rs3112831
pharmgkb	rs3112831
gwascentral	rs3112831
openSNP	rs3112831
23andMe	rs3112831
SNPshot	rs3112831
SNPdbe	rs3112831
MSV3d	rs3112831
GWAS Ctlg	rs3112831

GMAF

0.247

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 21106043] Genetic association study of age-related macular degeneration in the Spanish population

ClinVar
Risk	rs3112831(G;G)
Alt	rs3112831(G;G)
Reference	Rs3112831(A;A)
Significance	Probable-non-pathogenic
Disease	not provided not specified Macular degeneration Retinitis Pigmentosa Stargardt Disease Cone-Rod Dystrophy
Variation	info
Gene	ABCA4
CLNDBN	not provided not specified Macular degeneration Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive
Reversed	1
HGVS	NC_000001.10:g.94544234T>C; NC_000001.10:g.94544234T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085383.5, RCV000173675.2, RCV000297592.1, RCV000303578.1, RCV000360724.1, RCV000408013.1, RCV000085382.1,

[PMID 18523590] Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

[PMID 19430638] Host genetic and epigenetic factors in toxoplasmosis.