Rs33930165

rs33930165 is a relatively rare SNP found in the beta hemoglobin HBB gene, adjacent to the well-known SNP associated with malarial resistance (rs334). This SNP gives rise to the "Hb C", or hemoglobin C, form of hemoglobin as the HBB forms are commonly named. It is found primarily in a subset of West Africa.

rs33930165 is associated with increased malarial resistance, yet without giving rise to sickle cell anemia. A study of 4,000+ individuals in Burkina Faso found that rs33930165(A;G) heterozygotes had a 29% reduction in risk of clinical malaria (p = 0.0008), and rs33930165(C;C) homozygotes had a 93% reduction (p = 0.0011).


 * is_associated_with_disease::Malaria
 * is_associated_with_disease::Sickle cell anemia