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rs3729753

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs3729753(C;C)
Make rs3729753(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232938
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs3729753
dbSNP (old)rs3729753
ClinGenrs3729753
ebirs3729753
HLIrs3729753
Exacrs3729753
Gnomadrs3729753
Varsomers3729753
Maprs3729753
PheGenIrs3729753
Biobankrs3729753
1000 genomesrs3729753
hgdprs3729753
ensemblrs3729753
gopubmedrs3729753
geneviewrs3729753
scholarrs3729753
googlers3729753
pharmgkbrs3729753
gwascentralrs3729753
openSNPrs3729753
23andMers3729753
23andMe allrs3729753
SNP Nexus

SNPshotrs3729753
SNPdbers3729753
MSV3drs3729753
GWAS Ctlgrs3729753
GMAF0.02066
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 19371212] Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases
ClinVar
Risk rs3729753(C;C)
Alt rs3729753(C;C)
Reference Rs3729753(G;G)
Significance Other
Disease not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
HGVS NC_000005.9:g.172659941C>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000146754.5, RCV000471215.1,



[PMID 26297999] Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population