The most significant SNPs are rs12339666, which tags the JAK2 46/1 haplotype, and rs2201862, which is in a non-coding region proximal to MECOM. Of the three SNPs with moderate association, two are within or close to genes of potential functional relevance to MPN: the intergenic region between HBS1L and MYB and an intronic SNP in TERT, which has recently been associated with MPN in an independent study11, as well as several other malignancies. This evidence concerns the gene JAK2 and myeloproliferative neoplasm.