Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906775(C;G)
Make rs387906775(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position173234909
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs387906775
ebirs387906775
HLIrs387906775
Exacrs387906775
Varsomers387906775
Maprs387906775
PheGenIrs387906775
hapmaprs387906775
1000 genomesrs387906775
hgdprs387906775
ensemblrs387906775
gopubmedrs387906775
geneviewrs387906775
scholarrs387906775
googlers387906775
pharmgkbrs387906775
gwascentralrs387906775
openSNPrs387906775
23andMers387906775
23andMe allrs387906775
SNP Nexus

SNPshotrs387906775
SNPdbers387906775
MSV3drs387906775
GWAS Ctlgrs387906775
Max Magnitude0
ClinVar
Risk rs387906775(G;G)
Alt rs387906775(G;G)
Reference rs387906775(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.172661912G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023024.2,