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rs56298569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs56298569(C;G)
Make rs56298569(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position11755082
GeneGATA4
is asnp
is mentioned by
dbSNPrs56298569
dbSNP (classic)rs56298569
ClinGenrs56298569
ebirs56298569
HLIrs56298569
Exacrs56298569
Gnomadrs56298569
Varsomers56298569
LitVarrs56298569
Maprs56298569
PheGenIrs56298569
Biobankrs56298569
1000 genomesrs56298569
hgdprs56298569
ensemblrs56298569
geneviewrs56298569
scholarrs56298569
googlers56298569
pharmgkbrs56298569
gwascentralrs56298569
openSNPrs56298569
23andMers56298569
SNPshotrs56298569
SNPdbers56298569
MSV3drs56298569
GWAS Ctlgrs56298569
Max Magnitude0
OMIM600576
Desc
Variant0004
Relatedalso


ClinVar
Risk rs56298569(G;G) rs56298569(T;T)
Alt rs56298569(G;G) rs56298569(T;T)
Reference Rs56298569(C;C)
Significance Pathogenic
Disease Atrial septal defect 2
Variation info
Gene GATA4
CLNDBN Atrial septal defect 2
Reversed 0
HGVS NC_000008.10:g.11612591C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009599.2,