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rs387906771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906771(C;T)
Make rs387906771(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position11750166
GeneGATA4
is asnp
is mentioned by
dbSNPrs387906771
dbSNP (classic)rs387906771
ClinGenrs387906771
ebirs387906771
HLIrs387906771
Exacrs387906771
Gnomadrs387906771
Varsomers387906771
LitVarrs387906771
Maprs387906771
PheGenIrs387906771
Biobankrs387906771
1000 genomesrs387906771
hgdprs387906771
ensemblrs387906771
geneviewrs387906771
scholarrs387906771
googlers387906771
pharmgkbrs387906771
gwascentralrs387906771
openSNPrs387906771
23andMers387906771
SNPshotrs387906771
SNPdbers387906771
MSV3drs387906771
GWAS Ctlgrs387906771
Max Magnitude0
ClinVar
Risk rs387906771(T;T)
Alt rs387906771(T;T)
Reference Rs387906771(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.11607675C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023013.3,