Variant: rs121912945 

    present in Gene: COL11A2
    present in Chromosome: 6
    Position on Chromosome: 33177216
    Alleles of this Variant: C/G;T

rs121912945 in COL11A2 gene and Otospondylomegaepiphyseal dysplasia PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.