Table 2.
Summary of tested variants and phenotypes from real data
| Query variant set | N QV | N QT | N QV-QT pairs* | N QV-QT detected as Hc | N (%) unique variants detected as Hc | pc/pa |
|---|---|---|---|---|---|---|
|
FinnGen (with ) |
75 | 1582 | 130697 | 184 | 30 (40%) | 95.6 |
| FinnGen (no ) | 136 | 2275 | 193706 | 328 | 43 (31.62%) | 47.5 |
| pQTL (no ) | 505 | 2275 | 954616 | 29 | 9 (1.78%) | 1.28 |
| PTV all (no ) | 3586 | 2275 | 4359271 | 26 | 11 (0.31%) | 1.02 |
| PTV gnomAD (no ) | 366 | 2275 | 292787 | 7 | 2 (0.54%) | 2.59 |
| PTV stop gained (no ) | 911 | 2275 | 837060 | 15 | 6 (0.66%) | 1.39 |
QV query variant, QT query trait, N QV-QT number of trait-variant associations. The number of QT were lower for the FinnGen/UKBB dataset for the ʻwith rgʼ case as only traits having data with the primary traits available were retained (Methods).