rs121912872, COL2A1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Stickler Syndrome, Type I, Nonsyndromic Ocular
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
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
Stickler Syndrome, Type I, Nonsyndromic Ocular
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
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
Stickler Syndrome, Type I, Nonsyndromic Ocular
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
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
Stickler Syndrome, Type I, Nonsyndromic Ocular
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
0.800 CausalMutation CLINVAR