rs804280

Orientation

minus

Stabilized

minus

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

Make rs804280(G;T)

Make rs804280(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

11755189

Gene

GATA4

is a	snp
is	mentioned by
dbSNP	rs804280
dbSNP (classic)	rs804280
ClinGen	rs804280
ebi	rs804280
HLI	rs804280
Exac	rs804280
Gnomad	rs804280
Varsome	rs804280
LitVar	rs804280
Map	rs804280
PheGenI	rs804280
Biobank	rs804280
1000 genomes	rs804280
hgdp	rs804280
ensembl	rs804280
geneview	rs804280
scholar	rs804280
google	rs804280
pharmgkb	rs804280
gwascentral	rs804280
openSNP	rs804280
23andMe	rs804280
SNPshot	rs804280
SNPdbe	rs804280
MSV3d	rs804280
GWAS Ctlg	rs804280

GMAF

0.2989

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

GWAS snp
PMID	[PMID 23049088]
Trait	Myopia (pathological)
Title	A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population.
Risk Allele
P-val	4E-6
Odds Ratio	NR NR

[PMID 17592645] Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).

ClinVar
Risk	rs804280(T;T)
Alt	rs804280(T;T)
Reference	Rs804280(G;G)
Significance	Unknown
Disease	not provided
Variation	info
Gene	GATA4
CLNDBN	not provided
Reversed	1
HGVS	NC_000008.10:g.11612698C>A
CLNSRC	ClinVar
CLNACC	RCV000128537.1,