Variant: rs121912875 

    present in Gene: COL2A1;LOC105369752
    present in Chromosome: 12
    Position on Chromosome: 47979519
    Alleles of this Variant: C/A

rs121912875 in COL2A1;LOC105369752 gene and Strudwick syndrome PMID 7550321 1995 Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

PMID 16088915 2005 Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.