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

rs879253754

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879253754(-;-)
Make rs879253754(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position173232793
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs879253754
ebirs879253754
HLIrs879253754
Exacrs879253754
Varsomers879253754
Maprs879253754
PheGenIrs879253754
hapmaprs879253754
1000 genomesrs879253754
hgdprs879253754
ensemblrs879253754
gopubmedrs879253754
geneviewrs879253754
scholarrs879253754
googlers879253754
pharmgkbrs879253754
gwascentralrs879253754
openSNPrs879253754
23andMers879253754
23andMe allrs879253754
SNP Nexus

SNPshotrs879253754
SNPdbers879253754
MSV3drs879253754
GWAS Ctlgrs879253754
Max Magnitude0
ClinVar
Risk rs879253754(;)
Alt rs879253754(;)
Reference rs879253754(A;A)
Significance Probable-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.172659796delT
CLNSRC
CLNACC RCV000234875.1,