Table 2.
Natural selection positive results with pLi and GWAS catalog associations for each gene
| Gene | Group | SNPs with higher DAF in | Probability of LOF intolerance | GWAS catalog association |
|---|---|---|---|---|
| ATP8A2 | B | Europe | 0.00 | Eating disorders, bipolar disorder schizophrenia |
| FGF14 | B | East Asia | 0.72 | Preeclampsia, QT interval |
| SEMA6D | B | Europe, East Asia | 1.00 | Hair graying, Post bronchodilator FEV1/FVC ratio, BMI |
| MYO1D | B | Europe, East Asia | 0.00 | Refractive error |
| SLC8A1 | B | Europe | 0.99 | QT interval |
| SH3RF3 | B | Europe | 0.98 | facial and scalp hair features |
| KCNH7 | B | Europe | 0.98 | Psoriasis, inflammatory skin disease |
| PDE4D | B | East Asia | 0.98 | Breast cancer, asthma, immune response to smallpox vaccine (IL-6), esophageal cancer |
| GRIK2 | B | Europe, East Asia | 0.99 | Biochemical measures |
| WBSCR17 | B | Europe | 0.10 | Response to montelukast in asthma (change in FEV1), response to angiotensin II receptor blocker therapy |
| CSMD1 | B | Europe, East Asia | n.a | Menarche (age at onset), schizophrenia |
| NRG1 | B | Europe, East Asia | 0.95 | Thyroid hormone levels, thyroid cancer, Hirschsprung disease |
| PTPRD | B | Europe, East Asia | 1.00 | Immune response to measles-mumps-rubella vaccine,T2D, restless legs syndrome |
| ANTXR1 | A | Europe, East Asia | 0.99 | Height |
| SDK1 | A | East Asia | 0.01 | Motion sickness, cognitive decline rate in late mild cognitive impairment, quantitative traits |
| DGKI | A | Europe | 0.74 | BMI, schizophrenia, cognitive decline (age-related), AIDS progression |
| KIAA1217 | A | Europe | 0.01 | Cognitive performance, 3-hydroxy-1-methylpropylmercapturic acid levels in smokers |
| DLG2 | A | East Asia | 0.67 | Mild influenza (H1N1) infection, Wilms tumor, influenza A (H1N1) infection |
| WWOX | A | Europe | 0.00 | Pulmonary function, 3-hydroxy-1-methylpropylmercapturic acid levels in smokers |
| SNX29 | A | Europe | 0.00 | Visceral adipose tissue adjusted for BMI, schizophrenia, symmetrical dimethylarginine levels |
| TIAM1 | A | East Asia | 1.00 | Hypertension, amyotrophic lateral sclerosis |
SNPs with higher DAF in SNPs with higher derived allele frequency in, Probability of LOF intolerance (pLi) probability of loss-of-function intolerance: we consider pLI > = 0.9 as an extremely LoF intolerant set of genes, GWAS catalog association phenotype previously associated with the gene by means of gwas