Variant: rs121912882 

    present in Gene: COL2A1;LOC105369752
    present in Chromosome: 12
    Position on Chromosome: 47979534
    Alleles of this Variant: G/A

rs121912882 in COL2A1;LOC105369752 gene and Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness PMID 9800905 1998 Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

rs121912882 in COL2A1;LOC105369752 gene and Stickler syndrome, type 1 PMID 11007540 2000 Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 7977371 1994 Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.