Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. 24682174

2014
dbSNP: rs72651627
rs72651627
COL1A1
0.700 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: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients. 17875077

2007
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509

2006
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta]. 16638323

2006
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 16705691

2006
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion. 8223589

1993
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene. 1634225

1992
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. 1737847

1992
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen. 1718984

1991
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. 2794057

1989
dbSNP: rs72651627
rs72651627
COL1A1
0.700 GeneticVariation UNIPROT A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta. 3244312

1988