Fig. 2: Biomarker associations with sentinel variants.
From: Genetic associations of protein-coding variants in human disease
a, Heat map of sentinel associations with biomarkers. Only significant associations (P < 10−6) are shown. Colours on the left axis indicate chromosomes, with cyan indicating the MHC region. Colours on the right axis indicate sentinel association with disease by group. Colours along the top indicate the category of biomarkers. b, Forest plot of associations (unadjusted regression effect estimates with 95% confidence intervals (CI)) between SLC34A1 deletion (rs1460573878) with haematological and biochemistry biomarkers. associations with P < 0.05 are shown. c, Forest plot of associations (unadjusted regression effect estimate with 95% confidence interval (CI)) between CHEK2 deletion (rs555607708) with haematological biomarkers. Unadjusted P values are shown. Disease associations n = 653,219 biologically independent samples. Specific sample sizes for biomarker associations are listed in Supplementary Table 8. IGF-1, insulin-like growth factor 1; LDL, low-density lipoprotein; SHBG, sex hormone binding globulin.
