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rs387906774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906774(A;A)
Make rs387906774(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position173233164
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs387906774
ebirs387906774
HLIrs387906774
Exacrs387906774
Varsomers387906774
Maprs387906774
PheGenIrs387906774
hapmaprs387906774
1000 genomesrs387906774
hgdprs387906774
ensemblrs387906774
gopubmedrs387906774
geneviewrs387906774
scholarrs387906774
googlers387906774
pharmgkbrs387906774
gwascentralrs387906774
openSNPrs387906774
23andMers387906774
23andMe allrs387906774
SNP Nexus

SNPshotrs387906774
SNPdbers387906774
MSV3drs387906774
GWAS Ctlgrs387906774
Max Magnitude0
ClinVar
Risk rs387906774(A;A)
Alt rs387906774(A;A)
Reference rs387906774(C;C)
Significance Pathogenic
Disease Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
HGVS NC_000005.9:g.172660167G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023021.5,