The functional connection between this haplotype and thrombophilia risk is still unknown, but it might also rely on the T allele of rs3184504 marker in SH2B3. The protein adaptor coded by SH2B3 functions as a negative regulator of TNF signaling in endothelial cells [51] and may contribute to the progression of plaque formation in coronary arteries [52]. The gene discussed is TNF; the disease is Rare hereditary thrombophilia.