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Hereditary hemorrhagic telangiectasia type 2

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude
rs1219092844
rs1219092854
rs1219092864
rs1219092874
rs1219092884
rs289363994
rs289364014
rs289366884
rs3879063914
rs3879063924
rs3879063934

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude
rs1219092844
rs1219092854
rs1219092864
rs1219092874
rs1219092884
rs289363994
rs289364014
rs289366884
rs3879063914
rs3879063924
rs3879063934

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs.Wikipedia

Incidence: 1:5,000-10,000
Inheritance: Autosomal dominant.
Penetrance: Approaches 100 percent by age 40.
Cause: Mutations in one of the following genes: endoglin ENG, activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 and perhaps other unidentified gene(s).