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rs387906769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906769(C;T)
Make rs387906769(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position11708799
GeneGATA4
is asnp
is mentioned by
dbSNPrs387906769
dbSNP (classic)rs387906769
ClinGenrs387906769
ebirs387906769
HLIrs387906769
Exacrs387906769
Gnomadrs387906769
Varsomers387906769
LitVarrs387906769
Maprs387906769
PheGenIrs387906769
Biobankrs387906769
1000 genomesrs387906769
hgdprs387906769
ensemblrs387906769
geneviewrs387906769
scholarrs387906769
googlers387906769
pharmgkbrs387906769
gwascentralrs387906769
openSNPrs387906769
23andMers387906769
SNPshotrs387906769
SNPdbers387906769
MSV3drs387906769
GWAS Ctlgrs387906769
Max Magnitude0
ClinVar
Risk rs387906769(T;T)
Alt rs387906769(T;T)
Reference Rs387906769(C;C)
Significance Pathogenic
Disease Atrioventricular septal defect 4 Ventricular septal defect 1 Tetralogy of Fallot
Variation info
Gene GATA4
CLNDBN Atrioventricular septal defect 4 Ventricular septal defect 1 Tetralogy of Fallot
Reversed 0
HGVS NC_000008.10:g.11566308C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023002.3, RCV000023003.3, RCV000023004.5,