Variant: rs1060501408 

    present in Gene: ENG
    present in Chromosome: 9
    Position on Chromosome: 127854482
    Alleles of this Variant: G/A

rs1060501408 in ENG gene and Hereditary hemorrhagic telangiectasia PMID 22192717 2011 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

PMID 21967607 2011 Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.