Variant: rs1057523819 

    present in Gene: NOTCH1
    present in Chromosome: 9
    Position on Chromosome: 136517800
    Alleles of this Variant: C/T

rs1057523819 in NOTCH1 gene and ADAMS-OLIVER SYNDROME 5 PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.