rs193922139, 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 GeneticVariation CLINVAR Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen. 25963598 2015