Variant: rs1114167416

present in Gene: COL1A2 present in Chromosome: 7 Position on Chromosome: 94404694 Alleles of this Variant: G/A

rs1114167416 in COL1A2 gene and Lobstein Disease PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.