JAK2 and factor XI deficiency: Outside of JAK2, significant associations were identified involving three variants indicated as pathogenic or likely pathogenic by ClinVar: HBB with beta-thalassemia (p = 7.34 × 10−12), F11 with congenital factor XI deficiency (p = 3.41 × 10−11), and MYD88 with B-cell chronic lymphocytic leukemia (p = 1.08 × 10−9).