rs67815019, COL1A1

N. diseases: 2
Disease: Osteogenesis Imperfecta ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
0.700 CausalMutation CLINVAR Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family. 26712438 2016
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007