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

rs137852686

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852686(A;G)
Make rs137852686(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232997
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs137852686
ebirs137852686
HLIrs137852686
Exacrs137852686
Varsomers137852686
Maprs137852686
PheGenIrs137852686
hapmaprs137852686
1000 genomesrs137852686
hgdprs137852686
ensemblrs137852686
gopubmedrs137852686
geneviewrs137852686
scholarrs137852686
googlers137852686
pharmgkbrs137852686
gwascentralrs137852686
openSNPrs137852686
23andMers137852686
23andMe allrs137852686
SNP Nexus

SNPshotrs137852686
SNPdbers137852686
MSV3drs137852686
GWAS Ctlgrs137852686
Max Magnitude0
OMIM600584
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137852686(G;G)
Alt rs137852686(G;G)
Reference rs137852686(A;A)
Significance Pathogenic
Disease Atrioventricular septal defect
Variation info
Gene NKX2-5
CLNDBN Atrioventricular septal defect, somatic
Reversed 1
HGVS NC_000005.9:g.172660000T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009586.4,