Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859

2015
dbSNP: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer. 25086671

2014
dbSNP: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248

2012
dbSNP: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022

2007
dbSNP: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR 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: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs72645357
rs72645357
COL1A1
T 0.700 CausalMutation CLINVAR Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 2037280

1991