Rs28940870

rs28940870 represents a dominant (though rare) mutation in the SERPING1 gene, resulting in type II hereditary angioedema.

In October 2008, the US Food and Drug Administration (FDA) approved a C1 inhibitor human protein Cinryze to help prevent attacks in patients with hereditary angioedema. In clinical trials, Cinryze was effective in preventing or decreasing the frequency of attacks in most but not all patients with hereditary angioedema, which may be caused by several different mutations, one of which is rs28940870.