Table 5.
Identifier, position (in bp), genotype counts and exact p‐values for five tri‐allelic X‐chromosomal variants
| Variant | Position | Genotype counts | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Males | Females | |||||||||
| A | B | C | AA | AB | AC | BB | BC | CC | ||
| NA | 18892613 | 0 | 0 | 56 | 0 | 0 | 2 | 0 | 14 | 32 |
| NA | 44317003 | 2 | 2 | 52 | 0 | 0 | 0 | 0 | 0 | 48 |
| rs111463470 | 3107933 | 1 | 21 | 34 | 0 | 1 | 0 | 8 | 24 | 15 |
| rs79878783 | 67482671 | 0 | 15 | 41 | 0 | 0 | 1 | 3 | 41 | 3 |
| rs373113553 | 83676643 | 15 | 17 | 24 | 4 | 2 | 13 | 6 | 19 | 4 |
| Variant | Position | Exact p‐values | |||
|---|---|---|---|---|---|
| HWP & EAF | Perm. | HWP (F). | EAF | ||
| NA | 18892613 | 0.0026 | 0.0029 | 0.6923 | 0.0008 |
| NA | 44317003 | 0.0422 | 0.0418 | 1.0000 | 0.0172 |
| rs111463470 | 3107933 | 0.8309 | 0.8327 | 0.6443 | 0.7623 |
| rs79878783 | 67482671 | 0.0000 | 0.0000 | 0.0000 | 0.0079 |
| rs373113553 | 83676643 | 0.0310 | 0.0304 | 0.0072 | 0.8880 |
HWP & EAF, omnibus exact test for HWP and EAF jointly; Perm., approximation of the omnibus p‐value by a permutation procedure with 20,000 draws; HWP (F), exact test for HWP in females only; EAF, Fisher exact test for equality of allele frequencies in males and females.