Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 18996919

2009
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509

2006
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online. 10627137

1998
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone. 8182080

1994
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. 7891382

1994
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen. 7959683

1994
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype. 7693712

1993
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta. 7906591

1993
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern. 1339453

1992
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch. 1284475

1992
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta. 1385413

1992
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. 1874719

1991
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. 2777764

1989
dbSNP: rs72658187
rs72658187
COL1A2
0.700 GeneticVariation UNIPROT A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix. 2914942

1989