The minor allele of the second low frequency variant rs80087508 causes a lysine to arginine transition at position 167 in the extracellular domain of the receptor. This variant occurred exclusively in African Americans (MAF=0.01). This variant co-occurred with the common rs16969968 minor allele in 5 out of 38 individuals in the primary sample. In Multivariable Model Set 2 controlling for other coding variants, the minor allele of rs80087508 trended in the risk direction in African Americans (OR=2.1, p=0.06). Meta-analysis of these primary results and the 12 independent replication samples yielded an OR=1.6 in African Americans (p=0.02) (Supplementary Table S5).
