Fig. 4: Phenome-wide association study (PheWAS) for CHEK2 predicted loss of function (pLoF) variants and genome-wide association study (GWAS) for myeloid malignancy.
From: Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants
A Phenome wide association study (PheWAS) for CHEK2 predicted loss of function (pLoF) variants from the UK Biobank (UKBB). Hematologic phenome terms are indicated by dark red circles and malignancy diagnoses by light green circles. B Genome-wide association study (GWAS) from the UK Biobank for ICD-10 code C92 myeloid malignancy from the UK Biobank, significance lines indicated at -log10(5e-08) and -log10(5e-04) levels. C Cumulative proportion of participants from UKBB with malignant cancer who are CHEK2-wild type (wt) or carry pathogenic/likely pathogenic variants (CHEK2-path) by age of onset. D Cumulative proportion of CHEK2-path UKBB participants with HM diagnosis by age of onset.
