Variant: rs1057515422 

    present in Gene: NOTCH1
    present in Chromosome: 9
    Position on Chromosome: 136513049
    Alleles of this Variant: G/C

rs1057515422 in NOTCH1 gene and Aortic Valve Disease 1 PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.