Variant: rs72653170 

    present in Gene: COL1A1
    present in Chromosome: 17
    Position on Chromosome: 50188908
    Alleles of this Variant: G/A

rs72653170 in COL1A1 gene and Cortical Congenital Hyperostosis PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

rs72653170 in COL1A1 gene and Lobstein Disease PMID 18553566 2008 Prenatal cortical hyperostosis with COL1A1 gene mutation.

PMID 18704262 2008 The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).

PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 24390061 2014 Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

PMID 21249479 2011 COL1A1 mutation in an Indian child with Caffey disease.