Variant: rs1114167388

present in Gene: COL1A1 present in Chromosome: 17 Position on Chromosome: 50191840 Alleles of this Variant: C/G

rs1114167388 in COL1A1 gene and Osteogenesis imperfecta type III (disorder) PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.