Variant: rs1114167374

present in Gene: COL1A1 present in Chromosome: 17 Position on Chromosome: 50195262 Alleles of this Variant: G/-

rs1114167374 in COL1A1 gene and Lobstein Disease PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.