Variant: rs121912884 

    present in Gene: COL2A1
    present in Chromosome: 12
    Position on Chromosome: 47985575
    Alleles of this Variant: G/A

rs121912884 in COL2A1 gene and Stickler syndrome, type 1 PMID 7977371 1994 Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

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

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.