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rs387906770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906770(C;T)
Make rs387906770(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position11708439
GeneGATA4
is asnp
is mentioned by
dbSNPrs387906770
dbSNP (classic)rs387906770
ClinGenrs387906770
ebirs387906770
HLIrs387906770
Exacrs387906770
Gnomadrs387906770
Varsomers387906770
LitVarrs387906770
Maprs387906770
PheGenIrs387906770
Biobankrs387906770
1000 genomesrs387906770
hgdprs387906770
ensemblrs387906770
geneviewrs387906770
scholarrs387906770
googlers387906770
pharmgkbrs387906770
gwascentralrs387906770
openSNPrs387906770
23andMers387906770
SNPshotrs387906770
SNPdbers387906770
MSV3drs387906770
GWAS Ctlgrs387906770
Max Magnitude0
ClinVar
Risk rs387906770(A;A) rs387906770(T;T)
Alt rs387906770(A;A) rs387906770(T;T)
Reference Rs387906770(C;C)
Significance Pathogenic
Disease Ventricular septal defect 1
Variation info
Gene GATA4
CLNDBN Ventricular septal defect 1
Reversed 0
HGVS NC_000008.10:g.11565948C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023012.6,