Variant: rs373842615 

    present in Gene: LOC102723566;ENG
    present in Chromosome: 9
    Position on Chromosome: 127819662
    Alleles of this Variant: T/C

rs373842615 in LOC102723566;ENG gene and Hereditary hemorrhagic telangiectasia PMID 15879500 2006 Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

PMID 22385575 2012 A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.

PMID 20656886 2010 The physiological role of endoglin in the cardiovascular system.

rs373842615 in LOC102723566;ENG gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 16752392 2006 Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.