We demonstrate the utility of this resource for providing mechanistic insights into genetic associations through the example of variation in (1) ERAP2 and predisposition to autoimmune and infectious diseases, (2) FMO2 and interindividual variation in ethionamide pharmacokinetics and potential efficacy and toxicity, and (3) MFAP5 neutropenia induced by chemotherapy. The gene discussed is ERAP2; the disease is Decreased total neutrophil count.