Variant: rs121918353 

    present in Gene: JAG1
    present in Chromosome: 20
    Position on Chromosome: 10656452
    Alleles of this Variant: C/T

rs121918353 in JAG1 gene and Deafness, Congenital Heart Defects, and Posterior Embryotoxon PMID 20437614 2010 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

PMID 12022040 2002 Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.