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. Author manuscript; available in PMC: 2023 Jun 28.
Published in final edited form as: Clin Pharmacol Ther. 2020 Jul 18;108(6):1195–1202. doi: 10.1002/cpt.1927

Table 4.

Association of nonsynonymous F5 variants (common and rare) with ACEI-AE and ARB-AE

Chromosome Position rsID REF ALT MAF P OR Location AA Changes
1 169519049 rs6025a C T 0.048 5.96E-07 2.849 exon10 Q534R
1 169511878 rs6018 T G 0.054 0.228 1.279 exon13 N817T
1 169511755 rs4524 T C 0.249 0.3177 0.895 exon13 K858R
1 169519112 rs6020b C T 0.009 0.3278 1.691 exon10 R513K
1 169500232 rs200157005c G A 0.0005 0.3727 5.054 exon15 P1667L
1 169511576 rs149389480c G C 0.0005 0.3727 5.054 exon13 P918A
1 169524542 rs143509841c T G 0.0005 0.3727 5.054 exon7 K332N
1 169511585 rs9332695 T A 0.015 0.4527 1.691 exon13 T915S
1 169541513 rs6019 C G 0.051 0.6047 0.718 exon3 D107H
1 169513569 rs140530655c C T 0.0005 1 0.56 exon12 R647H
1 169529903 chr1:169529903c C T 0.0005 1 0.56 exon4 G159R

MAF is the minor allele frequency for the combination of cases and controls.

P and OR are from single variant analysis.

AA, amino acid; ACEI, angiotensin-converting enzyme inhibitor; AE, adverse event; ALT, alternative allele; ARB, angiotensin receptor blocker; OR, odds ratio; REF, reference allele; rsID, reference SNP cluster ID; SNP, single nucleotide polymorphism.

a

Factor V Leiden main causal variant in white European populations for deep vein thrombosis.

b

rs6020 has a 30-fold higher frequency in African and Asian populations (AF = 0.3). These populations are known to be at greater risk of angioedema.

c

Variants are used in the SKAT-O (sequence kernel association test – optimal) analysis (P = 0.00209).