Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912872
rs121912872
COL2A1
0.800 GeneticVariation UNIPROT Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. 17721977

2008
dbSNP: rs121912898
rs121912898
COL2A1
0.800 GeneticVariation UNIPROT Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. 17721977

2008
dbSNP: rs121912872
rs121912872
COL2A1
0.800 GeneticVariation UNIPROT High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 16752401

2006
dbSNP: rs121912898
rs121912898
COL2A1
0.800 GeneticVariation UNIPROT High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 16752401

2006
dbSNP: rs121912885
rs121912885
COL2A1
0.800 GeneticVariation UNIPROT A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. 15671297

2005
dbSNP: rs121912885
rs121912885
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: rs121912872
rs121912872
COL2A1
0.800 GeneticVariation UNIPROT Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) 8317498

1993
dbSNP: rs121912898
rs121912898
COL2A1
0.800 GeneticVariation UNIPROT Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) 8317498

1993
dbSNP: rs121912872
rs121912872
COL2A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121912885
rs121912885
COL2A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912898
rs121912898
COL2A1
T 0.800 CausalMutation CLINVAR

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
dbSNP: rs121912874
rs121912874
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912893
rs121912893
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912896
rs121912896
COL2A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912897
rs121912897
COL2A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs794727261
rs794727261
COL2A1
T 0.700 CausalMutation CLINVAR