Variant: rs1390736361 

    present in Gene: COL9A3
    present in Chromosome: 20
    Position on Chromosome: 62817592
    Alleles of this Variant: G/A

rs1390736361 in COL9A3 gene and EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 PMID 10090888 1999 COL9A3: A third locus for multiple epiphyseal dysplasia.

PMID 25381065 2014 Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.