Several are notable for the variant being associated with a disease directly or through a linked variant such as rs8066560 (TOM1L2, Parkinson’s disease), chr18:3375159:D (Fig. 3e, ELP2, oesophageal squamous cell carcinoma), rs74058715 (PADI4, rheumatoid arthritis), and rs1981760 (NOD2, leprosy and CD), the latter two described in detail below. The gene discussed is NOD2; the disease is Parkinson disease.