Variant: rs1554809331 

    present in Gene: LOC102723566;ENG
    present in Chromosome: 9
    Position on Chromosome: 127818727
    Alleles of this Variant: TCT/AC

rs1554809331 in LOC102723566;ENG gene and Hereditary hemorrhagic telangiectasia PMID 15907823 2005 Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1.

PMID 17384219 2007 Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

PMID 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.