Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72651658
rs72651658
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: rs72651658
rs72651658
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006

dbSNP: rs72651658
rs72651658
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: rs72651658
rs72651658
0.700 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: rs72651658
rs72651658
0.700 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: rs72651658
rs72651658
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: rs72651658
rs72651658
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: rs72651658
rs72651658
0.700 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: rs72651658
rs72651658
0.700 GeneticVariation UNIPROT Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 8364588

1993

dbSNP: rs72651658
rs72651658
0.700 GeneticVariation UNIPROT Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 8456809

1993

dbSNP: rs72651658
rs72651658
0.700 GeneticVariation UNIPROT An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. 7691343

1993

dbSNP: rs72651658
rs72651658
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 2037280

1991

dbSNP: rs72651658
rs72651658
0.700 GeneticVariation UNIPROT Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. 1770532

1991

dbSNP: rs72651658
rs72651658
0.700 GeneticVariation UNIPROT Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. 2511192

1989

dbSNP: rs72651658
rs72651658
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