Variant: rs1553303161 

    present in Gene: TGFB2
    present in Chromosome: 1
    Position on Chromosome: 218435965
    Alleles of this Variant: TCAA/G

rs1553303161 in TGFB2 gene and Holt-Oram syndrome PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.