Fig. 2: Effect of rare DD variant burden on binary DD-related phenotypes in UKB.
From: Genetic modifiers of rare variants in monogenic developmental disorder loci
Logistic regression of binary traits/diagnoses in individuals carrying 1, 2 or 3+ rare pLoF, deleterious missense or multigenic variants overlapping dominant DDG2P genes compared to the rest of UKB (that is, noncarriers). Data are presented as mean values ± 95% CI, where the solid lines indicate that the P value reached Bonferroni-corrected significance and the dashed lines indicate that it did not. P values were not corrected for multiple testing.
