Variant: rs387907278 

    present in Gene: TGFB2
    present in Chromosome: 1
    Position on Chromosome: 218437423
    Alleles of this Variant: C/A

rs387907278 in TGFB2 gene and LOEYS-DIETZ SYNDROME 4 PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.