Variant: rs104893900 

    present in Gene: NKX2-5
    present in Chromosome: 5
    Position on Chromosome: 173233011
    Alleles of this Variant: G/A

rs104893900 in NKX2-5 gene and ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS PMID 14607454 2003 NKX2.5 mutations in patients with congenital heart disease.

PMID 15342699 2004 Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

PMID 10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

PMID 15810002 2005 Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

PMID 9651244 1998 Congenital heart disease caused by mutations in the transcription factor NKX2-5.