Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72651645
rs72651645
COL1A1
T 0.800 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs72653178
rs72653178
COL1A1
T 0.800 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs72645357
rs72645357
COL1A1
0.800 GeneticVariation UNIPROT Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. 18670065

2008
dbSNP: rs72651645
rs72651645
COL1A1
0.800 GeneticVariation UNIPROT Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. 18670065

2008
dbSNP: rs72653178
rs72653178
COL1A1
0.800 GeneticVariation UNIPROT The second mutation changed glycine 1040 to serine located at the border of D4 and D0.4, in a proband manifesting OI type III, and lowered collagen stability at 39 degrees C (2 degrees C lower than normal). 18670065

2008
dbSNP: rs72645357
rs72645357
COL1A1
0.800 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006
dbSNP: rs72651645
rs72651645
COL1A1
0.800 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006
dbSNP: rs72653178
rs72653178
COL1A1
0.800 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006
dbSNP: rs72645357
rs72645357
COL1A1
0.800 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: rs72651645
rs72651645
COL1A1
0.800 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: rs72653178
rs72653178
COL1A1
0.800 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: rs72645357
rs72645357
COL1A1
0.800 GeneticVariation UNIPROT 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
dbSNP: rs72651645
rs72651645
COL1A1
0.800 GeneticVariation UNIPROT 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
dbSNP: rs72653178
rs72653178
COL1A1
0.800 GeneticVariation UNIPROT 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
dbSNP: rs72645357
rs72645357
COL1A1
0.800 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: rs72645357
rs72645357
COL1A1
0.800 GeneticVariation UNIPROT Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 8669434

1996
dbSNP: rs72651645
rs72651645
COL1A1
0.800 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: rs72651645
rs72651645
COL1A1
0.800 GeneticVariation UNIPROT Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 8669434

1996
dbSNP: rs72653178
rs72653178
COL1A1
0.800 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: rs72653178
rs72653178
COL1A1
0.800 GeneticVariation UNIPROT Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 8669434

1996
dbSNP: rs72645357
rs72645357
COL1A1
0.800 GeneticVariation UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420

1994
dbSNP: rs72645357
rs72645357
COL1A1
0.800 GeneticVariation UNIPROT Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. 8019571

1994
dbSNP: rs72651645
rs72651645
COL1A1
0.800 GeneticVariation UNIPROT Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. 8019571

1994
dbSNP: rs72651645
rs72651645
COL1A1
0.800 GeneticVariation UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420

1994
dbSNP: rs72653178
rs72653178
COL1A1
0.800 GeneticVariation UNIPROT Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 7881420

1994