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rs115099192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs115099192(A;A)
Make rs115099192(A;C)
ReferenceGRCh38 38.1/142
Chromosome8
Position11758366
GeneGATA4
is asnp
is mentioned by
dbSNPrs115099192
dbSNP (classic)rs115099192
ClinGenrs115099192
ebirs115099192
HLIrs115099192
Exacrs115099192
Gnomadrs115099192
Varsomers115099192
LitVarrs115099192
Maprs115099192
PheGenIrs115099192
Biobankrs115099192
1000 genomesrs115099192
hgdprs115099192
ensemblrs115099192
geneviewrs115099192
scholarrs115099192
googlers115099192
pharmgkbrs115099192
gwascentralrs115099192
openSNPrs115099192
23andMers115099192
SNPshotrs115099192
SNPdbers115099192
MSV3drs115099192
GWAS Ctlgrs115099192
Max Magnitude0
ClinVar
Risk rs115099192(A;A) rs115099192(G;G)
Alt rs115099192(A;A) rs115099192(G;G)
Reference Rs115099192(C;C)
Significance Pathogenic
Disease Tetralogy of Fallot Ventricular septal defect 1 Atrial septal defect 2 Atrioventricular septal defect 4
Variation info
Gene GATA4
CLNDBN Tetralogy of Fallot Ventricular septal defect 1 Atrial septal defect 2 Atrioventricular septal defect 4
Reversed 0
HGVS NC_000008.10:g.11615875C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023008.3, RCV000030949.3, RCV000490358.1,