Variant: rs387906850 

    present in Gene: SMAD3
    present in Chromosome: 15
    Position on Chromosome: 67181441
    Alleles of this Variant: C/T

rs387906850 in SMAD3 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 21217753 2011 Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

rs387906850 in SMAD3 gene and LOEYS-DIETZ SYNDROME 3 PMID 21217753 2011 Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

PMID 21778426 2011 Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.