Rs11591147

rs11591147, also known as R46L, is a SNP in the PCSK9 gene. As early as 2006, the minor rs11591147(T) allele was reported to be associated with lower LDL cholesterol levels, and most studies since have found that this also correlates to a two to three fold reduced risk for both early- and late-onset cardiovascular events and disease.

As part of a 9 SNP set studied in a meta-analysis totaling over 300,000 patients, rs11591147 was the SNP with the greatest effect on LDL-C and therefore cardiovascular risk reduction. The set of SNPs was as follows, ordered from strongest to least effect on coronary risk, and the allele shown is the one associated with reduced LDL-C levels along with the associated (or nearby) lipid metabolism gene:


 * rs11591147(T), PCSK9
 * rs4420638(A), APOE
 * rs6511720(T), LDLR
 * rs599839(G), SORT1
 * rs646776(C), SORT1
 * rs2228671(T), LDLR
 * rs11206510(C), PCSK9
 * rs4299376(T), ABCG8
 * rs12916(T), HMGCR

23andMe blog The T version of rs11591147 and the A version of rs28362286 have both been associated with decreased LDL levels. Each copy of these variants leads to lower LDL cholesterol.


 * is_associated_with_disease::Coronary heart disease
 * is_associated_with_disease::Carotid artery disease
 * is_associated_with_disease::Cancer