Variant: rs587777735

present in Gene: NOTCH1;MIR4673 present in Chromosome: 9 Position on Chromosome: 136519566 Alleles of this Variant: C/A

rs587777735 in NOTCH1;MIR4673 gene and ADAMS-OLIVER SYNDROME 5 PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.