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rs137852683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852683(A;G)
Make rs137852683(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232648
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs137852683
ebirs137852683
HLIrs137852683
Exacrs137852683
Varsomers137852683
Maprs137852683
PheGenIrs137852683
hapmaprs137852683
1000 genomesrs137852683
hgdprs137852683
ensemblrs137852683
gopubmedrs137852683
geneviewrs137852683
scholarrs137852683
googlers137852683
pharmgkbrs137852683
gwascentralrs137852683
openSNPrs137852683
23andMers137852683
23andMe allrs137852683
SNP Nexus

SNPshotrs137852683
SNPdbers137852683
MSV3drs137852683
GWAS Ctlgrs137852683
Max Magnitude0
OMIM600584
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852683(G;G)
Alt rs137852683(G;G)
Reference Rs137852683(A;A)
Significance Pathogenic
Disease Atrial septal defect 7 with or without atrioventricular conduction defects Atrioventricular septal defect
Variation info
Gene NKX2-5
CLNDBN Atrial septal defect 7 with or without atrioventricular conduction defects Atrioventricular septal defect, somatic
Reversed 1
HGVS NC_000005.9:g.172659651T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009579.5, RCV000009580.5,