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rs387906776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906776(C;G)
Make rs387906776(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232775
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs387906776
ebirs387906776
HLIrs387906776
Exacrs387906776
Varsomers387906776
Maprs387906776
PheGenIrs387906776
hapmaprs387906776
1000 genomesrs387906776
hgdprs387906776
ensemblrs387906776
gopubmedrs387906776
geneviewrs387906776
scholarrs387906776
googlers387906776
pharmgkbrs387906776
gwascentralrs387906776
openSNPrs387906776
23andMers387906776
23andMe allrs387906776
SNP Nexus

SNPshotrs387906776
SNPdbers387906776
MSV3drs387906776
GWAS Ctlgrs387906776
Max Magnitude0
ClinVar
Risk rs387906776(G,T;G,T)
Alt rs387906776(G,T;G,T)
Reference rs387906776(C;C)
Significance Pathogenic
Disease Ventricular septal defect 3
Variation info
Gene NKX2-5
CLNDBN Ventricular septal defect 3
Reversed 1
HGVS NC_000005.9:g.172659778G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023025.2,