Variant: rs387906558

present in Gene: COL2A1;LOC105369752 present in Chromosome: 12 Position on Chromosome: 47982892 Alleles of this Variant: C/T

rs387906558 in COL2A1;LOC105369752 gene and AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 PMID 15930420 2005 Type II collagen gene variants and inherited osteonecrosis of the femoral head.

PMID 21671384 2011 Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.