Fig. 1
Identification and characterization of 58 independent lead variants in 39 loci in a multi-ethnic study population. a Lead and conditionally independent SNPs from combined-phenotype analysis of total study population show shared genetic architecture directionally consistent with correlation structure. Colored circles to the right of figure correspond to trait-specific associations. X-axis: rsid (bottom) sorted by chromosome (top) and position; y-axis: significance of association and direction of effect, represented by t-value (scaled to a maximum of t = |15|). Size of circles is exponentially proportional to effect size standardized to trait means (3Z) to demonstrate differences in average effect size at lead SNPs by trait. Dashed gray lines correspond to genome-wide-significance threshold of a = 5E-09. b RBC trait pair partial correlations among MEGA-genotyped participants adjusted for linear regression model covariates (n = 29,090 for HCT, HGB, and MCHC measurements; n = 22,330 for MCH, MCV, and RBCC; n = 19,573 for RDW). c. Low-frequency and rare alleles exhibit larger magnitude of effect across RBC traits in the total multi-ethnic study population. X-axis: minor allele frequency; y-axis: effect size standardized to trait mean (|Z|). Filled circles represent variants present in all ancestry sub-populations; open circles are monomorphic in one or more ancestries