Table 2.
AF in GnomAD genome (V3) database of the 2 variants of SERPINB11 and CYP2D6 reported by Rakela et al. in a cohort of adult patients with acute liver failure of indeterminate etiology
| Population | SERPINB11: c.268G>T, p.Glu90Ter (rs4940595) | CYP2D6: c.1457G>C, p.Ser486Thr (rs1135840) | ||||||
| Allele count | Allele number | Homozygotes | AF | Allele count | Allele number | Homozygotes | AF | |
| African | 21,033 | 41,932 | 5,329 | 0.502 | 26,148 | 40,822 | 8,881 | 0.641 |
| Amish | 604 | 900 | 199 | 0.671 | 466 | 884 | 128 | 0.527 |
| Ashkenazi Jewish | 2,171 | 3,322 | 723 | 0.654 | 2,138 | 3,312 | 714 | 0.646 |
| East Asian | 1,206 | 3,124 | 232 | 0.386 | 2,162 | 3,060 | 782 | 0.707 |
| European (Finnish) | 6,987 | 10,438 | 2,314 | 0.669 | 5,217 | 10,388 | 1,330 | 0.502 |
| European (Non-Finnish) | 46,721 | 64,532 | 16,858 | 0.724 | 35,748 | 64,030 | 10,432 | 0.558 |
| Latino | 8,124 | 13,646 | 2,430 | 0.595 | 6,615 | 13,548 | 1,734 | 0.488 |
| South Asian | 1,904 | 3,028 | 597 | 0.629 | 1,663 | 2,972 | 489 | 0.559 |
| Other | 1,362 | 2,150 | 438 | 0.633 | 1,223 | 2,126 | 369 | 0.575 |
| Total | 90,112 | 143,072 | 29,120 | 0.629 | 81,380 | 141,142 | 24,859 | 0.577 |
AF, allele frequency.
