This intronic SNP is the major determinant of blue eye color through regulation of nearby OCA2. 42,43,44 The third recapitulated hit, at the CLPTM1L/TERT locus, has been implicated in other cancers, including lung cancer and melanoma (rs421284, p = 8.24 × 10−11).12 The gene discussed is TERT; the disease is lung carcinoma.