| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. | 27519266 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. | 26627451 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. | 26177859 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. | 21667357 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. | 21884818 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Collagen structure and stability. | 19344236 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. | 17078022 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | The human type I collagen mutation database. | 9016532 | 1997 |
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|
T | 0.700 | CausalMutation | CLINVAR | Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. | 9101304 | 1997 |
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T | 0.700 | CausalMutation | CLINVAR | Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. | 7695699 | 1994 |
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T | 0.700 | CausalMutation | CLINVAR | Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. | 8218237 | 1993 |