Variant: rs137852954 

    present in Gene: TBX20
    present in Chromosome: 7
    Position on Chromosome: 35248766
    Alleles of this Variant: G/A;C;T

rs137852954 in TBX20 gene and Atrial Septal Defect 4 PMID 19762328 2010 A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

PMID 17668378 2007 Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.