Gene: COL1A1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. 8786074

1996
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. 1939261

1991
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks. 2116413

1990
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. 2339700

1990
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. 7520724

1994
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 8364588

1993
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. 2035536

1991
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase. 1460047

1992
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. 3667599

1987
dbSNP: rs57377812
rs57377812
COL1A1
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: rs57377812
rs57377812
COL1A1
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: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. 3016737

1986
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. 3108247

1987
dbSNP: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 18996919

2009
dbSNP: rs57377812
rs57377812
COL1A1
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: rs57377812
rs57377812
COL1A1
0.700 GeneticVariation UNIPROT Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta. 25958000

2015
dbSNP: rs66501246
rs66501246
COL1A1
0.700 GeneticVariation UNIPROT

dbSNP: rs66548636
rs66548636
COL1A1
0.700 GeneticVariation UNIPROT

dbSNP: rs66929517
rs66929517
COL1A1
0.700 GeneticVariation UNIPROT SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209

1993
dbSNP: rs66929517
rs66929517
COL1A1
0.700 GeneticVariation UNIPROT Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. 8786074

1996
dbSNP: rs66929517
rs66929517
COL1A1
0.700 GeneticVariation UNIPROT A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. 1939261

1991
dbSNP: rs66929517
rs66929517
COL1A1
0.700 GeneticVariation UNIPROT Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. 3108247

1987
dbSNP: rs66929517
rs66929517
COL1A1
0.700 GeneticVariation UNIPROT The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. 1613761

1992
dbSNP: rs66929517
rs66929517
COL1A1
0.700 GeneticVariation UNIPROT A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. 3667599

1987
dbSNP: rs66929517
rs66929517
COL1A1
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. 7520724

1994