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rs2277923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2277923(A;G)
Make rs2277923(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position173235021
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs2277923
ebirs2277923
HLIrs2277923
Exacrs2277923
Varsomers2277923
Maprs2277923
PheGenIrs2277923
hapmaprs2277923
1000 genomesrs2277923
hgdprs2277923
ensemblrs2277923
gopubmedrs2277923
geneviewrs2277923
scholarrs2277923
googlers2277923
pharmgkbrs2277923
gwascentralrs2277923
openSNPrs2277923
23andMers2277923
23andMe allrs2277923
SNP Nexus

SNPshotrs2277923
SNPdbers2277923
MSV3drs2277923
GWAS Ctlgrs2277923
GMAF0.4885
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 19371212] Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases


[PMID 15161646OA-icon.png] Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.


ClinVar
Risk rs2277923(G;G)
Alt rs2277923(G;G)
Reference rs2277923(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NKX2-5
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.172662024T>C
CLNSRC ClinVar Emory University GeneDx University of Chicago
CLNACC RCV000037967.9,



[PMID 26297999] Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population


[PMID 26823822] Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.