Variant: rs397516908 

    present in Gene: NKX2-5
    present in Chromosome: 5
    Position on Chromosome: 173233142
    Alleles of this Variant: CCG/AT

rs397516908 in NKX2-5 gene and Congenital Heart Defects PMID 10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

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