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rs804280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs804280(G;T)
Make rs804280(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position11755189
GeneGATA4
is asnp
is mentioned by
dbSNPrs804280
ebirs804280
HLIrs804280
Exacrs804280
Varsomers804280
Maprs804280
PheGenIrs804280
hapmaprs804280
1000 genomesrs804280
hgdprs804280
ensemblrs804280
gopubmedrs804280
geneviewrs804280
scholarrs804280
googlers804280
pharmgkbrs804280
gwascentralrs804280
openSNPrs804280
23andMers804280
23andMe allrs804280
SNP Nexus

SNPshotrs804280
SNPdbers804280
MSV3drs804280
GWAS Ctlgrs804280
GMAF0.2989
Max Magnitude0
? (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 17592645OA-icon.png] 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,