Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912943
rs121912943
COL11A1
0.800 GeneticVariation UNIPROT Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs121912943
rs121912943
COL11A1
0.800 GeneticVariation UNIPROT Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 10486316

1999
dbSNP: rs121912943
rs121912943
COL11A1
0.800 GeneticVariation UNIPROT A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. 8872475

1996
dbSNP: rs121912943
rs121912943
COL11A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1557877041
rs1557877041
COL11A1
T 0.700 GeneticVariation CLINVAR A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. 27081569

2016
dbSNP: rs1057518666
rs1057518666
COL11A1
T 0.700 GeneticVariation CLINVAR Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs1553193910
rs1553193910
COL11A1
0.700 GeneticVariation UNIPROT Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs1553193913
rs1553193913
COL11A1
0.700 GeneticVariation UNIPROT Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs1557877041
rs1557877041
COL11A1
T 0.700 GeneticVariation CLINVAR Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134

2010
dbSNP: rs1557932876
rs1557932876
COL11A1
G 0.700 GeneticVariation CLINVAR Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. 11668615

2001
dbSNP: rs1557877041
rs1557877041
COL11A1
T 0.700 GeneticVariation CLINVAR Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine. 10725403

2000
dbSNP: rs1553193910
rs1553193910
COL11A1
0.700 GeneticVariation UNIPROT Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 10486316

1999
dbSNP: rs1553193913
rs1553193913
COL11A1
0.700 GeneticVariation UNIPROT Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 10486316

1999
dbSNP: rs1557847904
rs1557847904
COL11A1
T 0.700 CausalMutation CLINVAR Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 10486316

1999
dbSNP: rs1553193910
rs1553193910
COL11A1
0.700 GeneticVariation UNIPROT A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. 8872475

1996
dbSNP: rs1553193913
rs1553193913
COL11A1
0.700 GeneticVariation UNIPROT A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. 8872475

1996
dbSNP: rs749663226
rs749663226
COL11A1
0.700 GeneticVariation UNIPROT

dbSNP: rs866783525
rs866783525
COL11A1
A 0.700 CausalMutation CLINVAR