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. 2020 Aug 23;11(8):e00180. doi: 10.14309/ctg.0000000000000180

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

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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.