Additional variants associated with susceptibility and prognosis in cancer are found to interrupt positively scored uORFs, like rs779805 upstream of the VHL gene, and rs34330 upstream of CDKN1B. Although linkage disequilibrium and overlap among regulatory elements complicates interpretation of these GWAS studies, these disease-associated SNVs may owe their functional consequence to alteration of a translated uORF. Here, VHL is linked to cancer.