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rs72554028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554028(A;A)
Make rs72554028(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position173233001
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs72554028
ebirs72554028
HLIrs72554028
Exacrs72554028
Varsomers72554028
Maprs72554028
PheGenIrs72554028
hapmaprs72554028
1000 genomesrs72554028
hgdprs72554028
ensemblrs72554028
gopubmedrs72554028
geneviewrs72554028
scholarrs72554028
googlers72554028
pharmgkbrs72554028
gwascentralrs72554028
openSNPrs72554028
23andMers72554028
23andMe allrs72554028
SNP Nexus

SNPshotrs72554028
SNPdbers72554028
MSV3drs72554028
GWAS Ctlgrs72554028
GMAF0.00551
Max Magnitude0
ClinVar
Risk rs72554028(A,C;A,C)
Alt rs72554028(A,C;A,C)
Reference rs72554028(G;G)
Significance Probable-Pathogenic
Disease Atrial septal defect 7 with or without atrioventricular conduction defects Atrial septal defect not specified
Variation info
Gene NKX2-5
CLNDBN Atrial septal defect 7 with or without atrioventricular conduction defects Atrial septal defect not specified
Reversed 1
HGVS NC_000005.9:g.172660004C>G; NC_000005.9:g.172660004C>T
CLNSRC HGMD
CLNACC RCV000030338.1, RCV000030337.1, RCV000146753.6, RCV000227846.1,


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

[PMID 18976153] Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.

[PMID 19181906OA-icon.png] Investigation of somatic NKX2-5 mutations in congenital heart disease.

[PMID 19464101] Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.