Fig. 4: Age at first diagnosis of known disease-associated variants.
From: Mono- and biallelic variant effects on disease at biobank scale
Data are shown as survival plots. a, Known likely pathogenic variant (known recessive inheritance) in GJB2 associated with hearing loss also in a heterozygous state (P = 0.02). The y axis is cut at 0.9 for clarity. b, Known likely pathogenic variant in XPA associated with skin cancer (P = 8 × 10−11). In a homozygous state, this variant causes xeroderma pigmentosum with childhood-onset skin cancer40. c, Likely benign missense variant in DBH protects from hypertension (P = 5.2 × 10−13). (DBH is associated with the recessively inherited disease dopamine beta-hydroxylase deficiency, which is characterized by severe hypotension31). a and b show R4 data (n = 176,899); c shows R6 data (n = 234,553). Survival curves of wild-type individuals are coloured in blue, heterozygous individuals in yellow and homozygous individuals in red. The 95% confidence intervals of the point estimates are shaded in light blue, light yellow or light red.
