Gene/phenotypic characterization within thrombocytosis cohorts. (A) Distribution of the 5 nsSNVs among the ET cohort by platelet JAK2V617F allelic burden. (B) ORs with confidence intervals (CIs) were calculated by thrombocytosis phenotype (ET, RT) using genotyped validation controls (N = 208); only BLVRBS111L remains a strong risk allele irrespective of thrombocytosis etiology (RT OR = 10.2; CI, 1.96-53.6; P = .005). (C-D) Hemoglobin and platelet counts plotted by JAK2V617F allelic burden (substratified by zygosity for BLVRB 462C→T [S111L] mutation) were fit by linear regressions.