Variant: rs1085307430

present in Gene: LOC105379841;ENG present in Chromosome: 9 Position on Chromosome: 127825698 Alleles of this Variant: CCGAG/-

rs1085307430 in LOC105379841;ENG gene and HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION PMID 14684682 2003 Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.