Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509

2006

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online. 10408781

1999

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. 8800927

1996

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. 8723681

1996

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 8829649

1996

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. 7860070

1995

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 7749416

1995

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. 7720740

1995

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420

1994

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. 7520724

1994

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. 8081394

1994

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. 8456807

1993

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 8444468

1993

dbSNP: rs72658186
rs72658186
0.700 GeneticVariation UNIPROT The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix. 1990009

1991