Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta. 25958000

2015

dbSNP: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 18996919

2009

dbSNP: rs72651653
rs72651653
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: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. 7520724

1994

dbSNP: rs72651653
rs72651653
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: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 8364588

1993

dbSNP: rs72651653
rs72651653
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: rs72651653
rs72651653
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: rs72651653
rs72651653
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: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. 1939261

1991

dbSNP: rs72651653
rs72651653
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: rs72651653
rs72651653
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: rs72651653
rs72651653
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: rs72651653
rs72651653
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: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion. 2211725

1990

dbSNP: rs72651653
rs72651653
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: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. 3403550

1988

dbSNP: rs72651653
rs72651653
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: rs72651653
rs72651653
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: rs72651653
rs72651653
0.700 GeneticVariation UNIPROT Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. 3016737

1986