rs72653170, COL1A1

N. diseases: 10
Disease: Cortical hyperostosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cortical hyperostosis
CUI: C1394142
Disease: Cortical hyperostosis
0.010 GeneticVariation BEFREE In addition, we found normal bone mineral density in adult patients of both families who have had an episode of cortical hyperostosis regardless of the presence or absence of the common p.Arg1014Cys mutation. 24390061 2014