Variant: rs375086983 

    present in Gene: NKX2-5
    present in Chromosome: 5
    Position on Chromosome: 173232696
    Alleles of this Variant: G/A;T

rs375086983 in NKX2-5 gene and VENTRICULAR SEPTAL DEFECT 3 PMID 21165553 2011 A novel NKX2-5 mutation in familial ventricular septal defect.

PMID 21110066 2010 Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.