Similarly, one of the reference missense SNVs, rs116506614 (c.2162G>A, p.R721Q), located in the TK domain of EPHA2, that has previously been associated with age-related cortical cataract [26], was present in a case with cortical cataract and in a control from our cataract case-control panel. The gene discussed is EPHA2; the disease is cataract.