rs72654802, COL1A1

N. diseases: 3
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
0.020 GeneticVariation BEFREE This is the first description in a Brazilian family with OI showing variable expression; only one among seven carriers for the c.3235G>A mutation developed bone fractures, the most striking clinical feature of this disease. 23079818 2012
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
0.020 GeneticVariation BEFREE We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI. 21594610 2011