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rs146017816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146017816(C;G)
Make rs146017816(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position11758471
GeneGATA4
is asnp
is mentioned by
dbSNPrs146017816
dbSNP (classic)rs146017816
ClinGenrs146017816
ebirs146017816
HLIrs146017816
Exacrs146017816
Gnomadrs146017816
Varsomers146017816
LitVarrs146017816
Maprs146017816
PheGenIrs146017816
Biobankrs146017816
1000 genomesrs146017816
hgdprs146017816
ensemblrs146017816
geneviewrs146017816
scholarrs146017816
googlers146017816
pharmgkbrs146017816
gwascentralrs146017816
openSNPrs146017816
23andMers146017816
SNPshotrs146017816
SNPdbers146017816
MSV3drs146017816
GWAS Ctlgrs146017816
Max Magnitude0
ClinVar
Risk rs146017816(G;G) rs146017816(T;T)
Alt rs146017816(G;G) rs146017816(T;T)
Reference Rs146017816(C;C)
Significance Pathogenic
Disease Atrioventricular septal defect 4 Ventricular septal defect 1
Variation info
Gene GATA4
CLNDBN Atrioventricular septal defect 4 Ventricular septal defect 1
Reversed 0
HGVS NC_000008.10:g.11615980C>G; NC_000008.10:g.11615980C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000458303.1, RCV000023007.5,