Table 3.
Genes showing significant association with at least one disease using LPC and PheRS with pre-selected phecodes.
| Ethnicity | Disease | Gene | p.all | p.common | p.rare |
|---|---|---|---|---|---|
| LPC with pre-selected phecodes | |||||
| European | CKD | LDLR | 1.530E−06 | NA | 1.530E−06 |
| European | CAD | LDLR | 7.852E−10 | NA | 7.852E−10 |
| European | HF | NF2 | 1.009E−06 | NA | 1.009E−06 |
| African American | HF | LMNA | 2.680E−06 | NA | 2.680E−06 |
| Asian | CKD | APOB | 1.006E−07 | 6.146E−01 | 7.317E−08 |
| PheRS with pre-selected phecodes | |||||
| European | CKD | CHEK2 | 4.128E−07 | NA | 4.128E−07 |
| European | CAD | LDLR | 5.816E−07 | NA | 5.816E−07 |
| European | CAD | CFTR | 1.266E−06 | NA | 1.266E−06 |
| European | HF | CFTR | 1.189E−06 | NA | 1.189E−06 |
| European | HF | LDLR | 2.306E−06 | NA | 2.306E−06 |
| African American | GERD | CACNA1S | 1.907E−06 | 2.455E−01 | 1.387E−06 |
The p-values from the combined test (p.all), the tests including only common variants (p.common), and tests including only rare variants (p.rare). No exome-wide significant results were identified for PheNorm. Only the significant results are shown for combined tests. See Supplementary Table 6 for both combined and individual tests results.