Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912894
rs121912894
COL2A1
0.700 GeneticVariation UNIPROT A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. 15671297

2005
dbSNP: rs121912894
rs121912894
COL2A1
0.700 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