Variant: rs121913568 

    present in Gene: ACAN
    present in Chromosome: 15
    Position on Chromosome: 88872038
    Alleles of this Variant: G/A

rs121913568 in ACAN gene and Spondyloepimetaphyseal Dysplasia, Aggrecan Type PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.