Variant: rs121912877 

    present in Gene: COL2A1
    present in Chromosome: 12
    Position on Chromosome: 47993825
    Alleles of this Variant: C/T

rs121912877 in COL2A1 gene and Kniest dysplasia PMID 7874117 1994 A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

PMID 8863156 1996 The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.