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rs56208331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs56208331(A;A)
Make rs56208331(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position11758419
GeneGATA4
is asnp
is mentioned by
dbSNPrs56208331
dbSNP (classic)rs56208331
ClinGenrs56208331
ebirs56208331
HLIrs56208331
Exacrs56208331
Gnomadrs56208331
Varsomers56208331
LitVarrs56208331
Maprs56208331
PheGenIrs56208331
Biobankrs56208331
1000 genomesrs56208331
hgdprs56208331
ensemblrs56208331
geneviewrs56208331
scholarrs56208331
googlers56208331
pharmgkbrs56208331
gwascentralrs56208331
openSNPrs56208331
23andMers56208331
SNPshotrs56208331
SNPdbers56208331
MSV3drs56208331
GWAS Ctlgrs56208331
Max Magnitude0
OMIM600576
Desc
Variant0005
Relatedalso


ClinVar
Risk rs56208331(A;A) rs56208331(T;T)
Alt rs56208331(A;A) rs56208331(T;T)
Reference Rs56208331(G;G)
Significance Pathogenic
Disease Atrial septal defect 2 Tetralogy of Fallot Inborn genetic diseases not provided
Variation info
Gene GATA4
CLNDBN Atrial septal defect 2 Tetralogy of Fallot Inborn genetic diseases not provided
Reversed 0
HGVS NC_000008.10:g.11615928G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009600.3, RCV000009601.3, RCV000190715.1, RCV000431077.1,