Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912884
rs121912884
COL2A1
0.800 GeneticVariation UNIPROT Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs121912884
rs121912884
COL2A1
0.800 GeneticVariation UNIPROT 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. 11007540

2000
dbSNP: rs121912884
rs121912884
COL2A1
0.800 GeneticVariation UNIPROT Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. 7977371

1994
dbSNP: rs121912884
rs121912884
COL2A1
A 0.800 CausalMutation CLINVAR