Fig. 3. Age at first diagnosis of variants with recessive disease associations.

Data are shown as survival plots. a, Missense variant in CASP7 associated with cataract; not previously described (P = 2.5 × 10⁻¹⁶); n = 176,899. b, Missense variant in C10orf90 associated with hearing loss (P = 2.2 × 10⁻¹²); only recently described⁵³; n = 176,899. c, Intronic variant in EBAG associated with female infertility (P = 1.6 × 10⁻¹¹); not previously described; n = 110,361 female individuals. Survival curves of wild-type individuals are coloured in blue, heterozygotes in yellow and homozygotes in red. The 95% confidence intervals of the point estimates are shaded in light blue, light yellow or light red.