Variant: rs121434414 

    present in Gene: PLOD3
    present in Chromosome: 7
    Position on Chromosome: 101215100
    Alleles of this Variant: T/C

rs121434414 in PLOD3 gene and Bone Fragility with Contractures, Arterial Rupture, and Deafness PMID 30089812 2018 Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.

PMID 18834968 2008 A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

PMID 30237576 2019 Autozygome and high throughput confirmation of disease genes candidacy.