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rs115372595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs115372595(C;T)
Make rs115372595(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position11756974
GeneGATA4
is asnp
is mentioned by
dbSNPrs115372595
dbSNP (classic)rs115372595
ClinGenrs115372595
ebirs115372595
HLIrs115372595
Exacrs115372595
Gnomadrs115372595
Varsomers115372595
LitVarrs115372595
Maprs115372595
PheGenIrs115372595
Biobankrs115372595
1000 genomesrs115372595
hgdprs115372595
ensemblrs115372595
geneviewrs115372595
scholarrs115372595
googlers115372595
pharmgkbrs115372595
gwascentralrs115372595
openSNPrs115372595
23andMers115372595
SNPshotrs115372595
SNPdbers115372595
MSV3drs115372595
GWAS Ctlgrs115372595
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs115372595(T;T)
Alt rs115372595(T;T)
Reference Rs115372595(C;C)
Significance Other
Disease Atrioventricular septal defect 4
Variation info
Gene GATA4
CLNDBN Atrioventricular septal defect 4
Reversed 0
HGVS NC_000008.10:g.11614483C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023005.5,