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rs397516908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGG;CGG) 0 common in clinvar
Make rs397516908(AT;AT)
Make rs397516908(AT;CGG)
ReferenceGRCh38 38.1/141
Chromosome5
Position173233142
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs397516908
ebirs397516908
HLIrs397516908
Exacrs397516908
Varsomers397516908
Maprs397516908
PheGenIrs397516908
hapmaprs397516908
1000 genomesrs397516908
hgdprs397516908
ensemblrs397516908
gopubmedrs397516908
geneviewrs397516908
scholarrs397516908
googlers397516908
pharmgkbrs397516908
gwascentralrs397516908
openSNPrs397516908
23andMers397516908
23andMe allrs397516908
SNP Nexus

SNPshotrs397516908
SNPdbers397516908
MSV3drs397516908
GWAS Ctlgrs397516908
Max Magnitude0
ClinVar
Risk rs397516908(AT;AT)
Alt rs397516908(AT;AT)
Reference rs397516908(CGG;CGG)
Significance Probable-Pathogenic
Disease Atrial septal defect
Variation info
Gene NKX2-5
CLNDBN Atrial septal defect
Reversed 1
HGVS NC_000005.9:g.172660145_172660147delCCGinsAT
CLNSRC ClinVar
CLNACC RCV000037965.2,