Variant: rs777647845 

    present in Gene: AEBP1
    present in Chromosome: 7
    Position on Chromosome: 44111533
    Alleles of this Variant: C/A

rs777647845 in AEBP1 gene and EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 PMID 29606302 2018 Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.