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. 2022 Mar 24;18(3):e1010105. doi: 10.1371/journal.pgen.1010105

Table 1. The prioritization of the medically relevant alleles with penalty factors.

The numbers of the genetic variants or allelotypes with non-zero coefficient values are shown for the selected four traits. The denominator represents the total number of variables included in the model. The numerator represents the number of the medically relevant alleles, which are one of the following: protein-truncating variants, protein-altering variants, imputed HLA allelotypes, the pathogenic or likely-pathogenic variants in the ClinVar database. The enrichment of the medically relevant variants is also shown.

Trait Number of selected genetic variants or allelotypes
with penalty factor without penalty factor enrichment
Standing height 4187 / 51209 2129 / 55937 2.15
Body mass index 2543 / 27126 977 / 28667 2.75
High cholesterol 969 / 5987 215 / 5506 4.14
Asthma 1022 / 6430 250 / 6819 4.34