Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
0.710 GeneticVariation BEFREE A p.R904C variant of the COL2A1 gene was found in a patient, who was accordingly diagnosed with Stickler syndrome. 30541462

2018
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
0.710 GeneticVariation UNIPROT Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
0.710 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: rs121912882
rs121912882
COL2A1 ; LOC105369752
0.710 GeneticVariation UNIPROT Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. 7977371

1994