Associations of DDX41 germ line variants with MDS/AML and other phenotypes. (A) Distribution of age at MDS/AML diagnosis of 45 DDX41 germ line variant carriers (red, left y-axis) and 1190 noncarriers (olive, right y-axis) who developed AML or MDS. (B) Frequencies of DDX41 variant types among carriers who developed AML, MDS, and MPN (variants in carriers who developed MPN are shown only for comparison and were not used for variant risk estimation). (C) Location and frequency of DDX41 variants present in participants who developed MN. The frequency of each variant in participants who developed MN is shown on the top and in the entire UKB on the bottom panel. Variants present in participants who developed MDS/AML are depicted as closed orange circles and MPN as open orange circles. Variant types are color-coded as per the figure key. (D) OR for developing MDS/AML with different types of germ line DDX41 variants compared with that of participants with no such variants. OR that are significantly different from 1 (P-adjusted < .05; P values adjusted for 173 tests, including the association tests for other phenotypes shown in Figure 2E, Bonferroni correction) are depicted in red. (E) Associations between different DDX41 variant types and other phenotypes. Gray color indicates that the analysis was not possible as no variant carrier developed the phenotype. An asterisk denotes significant associations after multiple testing correction (P-adjusted < .05; P values adjusted for 173 tests). SLE, systemic lupus erythematosus; RA, rheumatoid arthritis.