We screened for nine OI-causative genes: BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, P3H1, PPIB, and SERPINF1. Allele frequencies were evaluated based on the Genome Aggregation Database, Human Genetic Variation Database, Japanese Multi Omics Reference Panel, and GEnome Medical alliance Japan Whole Genome Aggregation Panel. This evidence concerns the gene COL1A1 and osteogenesis imperfecta.