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rs104894073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894073(A;A)
Make rs104894073(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position11750213
GeneGATA4
is asnp
is mentioned by
dbSNPrs104894073
ebirs104894073
HLIrs104894073
Exacrs104894073
Varsomers104894073
Maprs104894073
PheGenIrs104894073
hapmaprs104894073
1000 genomesrs104894073
hgdprs104894073
ensemblrs104894073
gopubmedrs104894073
geneviewrs104894073
scholarrs104894073
googlers104894073
pharmgkbrs104894073
gwascentralrs104894073
openSNPrs104894073
23andMers104894073
23andMe allrs104894073
SNP Nexus

SNPshotrs104894073
SNPdbers104894073
MSV3drs104894073
GWAS Ctlgrs104894073
Max Magnitude0
OMIM600576
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894073(A,C,T;A,C,T)
Alt rs104894073(A,C,T;A,C,T)
Reference rs104894073(G;G)
Significance Pathogenic
Disease Atrial septal defect 2 Ventricular septal defect 1
Variation info
Gene GATA4
CLNDBN Atrial septal defect 2 Ventricular septal defect 1
Reversed 0
HGVS NC_000008.10:g.11607722G>A; NC_000008.10:g.11607722G>C; NC_000008.10:g.11607722G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009596.2, RCV000023011.5, RCV000023001.2,