Day 7 has 68 protein-coding genes, including PCSK9 (proprotein convertase subtilisin/kexin type 9). The PCSK9 gene was discovered in 2003 by studying families with very high cholesterol. It soon became clear that different people harbored a whole spectrum of PCSK9 variants, some of which deactivated the protein and led to low LDL and lower risk of cardiovascular disease. PCSK9 became an extraordinary case of a genetic finding leading quickly to new drugs to lower cholesterol.
Click here to see a common variant, rs11591147 (R46L), in PCSK9 – it will be flashing. Having a T instead of a G here leads to a 2-3 fold lower risk of heart disease. This mutation is found on 1-2% of European-ancestry genomes but is rare elsewhere in the world.