present in Gene: COL1A1
present in Chromosome: 17
Position on Chromosome: 50195227
Alleles of this Variant: C/T
rs193922139 in
COL1A1 gene and
Osteogenesis Imperfecta
PMID 25963598 2015 Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.