Variant: rs1114167402

present in Gene: COL1A1 present in Chromosome: 17 Position on Chromosome: 50186507 Alleles of this Variant: C/A;T

rs1114167402 in COL1A1 gene and Lobstein Disease PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

rs1114167402 in COL1A1 gene and Osteogenesis imperfecta type IV (disorder) PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.