Table 1.
Gene | dbSNP ID | Nucleotide change | Amino acid change | MAFa | Reference |
---|---|---|---|---|---|
OCT1 (SLC22A1) | rs12208357 | c.181C>T | R61C | 0.06 | Shu et al., 200715; Shu et al., 200816; Tzvetkov et al., 200928; Zhou et al., 200919; Christensen et al., 201123 |
rs72552763 | c.1260GAT>del | M420del | 0.1915, 45 | Shu et al., 200715; Shu et al., 200816; Tzvetkov et al., 200928; Zhou et al., 200919; Christensen et al., 201123 | |
rs622342 | Intron A>C | 0.38 | Becker et al., 200920; Christensen et al., 201123 | ||
OCT2 (SLC22A2) | rs316019 | c.808G>T | A270S | 0.11 | Song et al., 200829; Wang et al., 200830; Chen et al., 200917; Christensen et al., 201123; Tkáč et al., 201325 |
MATE1 (SLC47A1) | rs2289669 | Intron G>A | 0.42 | Becker et al., 200921; Tzvetkov et al., 200928; Jablonski et al., 201031; Christensen et al., 201123; Tkáč et al., 201325 | |
rs2252281 | g.‐66T>C | 0.41 | Stocker et al., 201318 | ||
MATE2‐K (SLC47A2) | rs12943590 | g.‐130G>A | 0.27 | Choi et al., 201124; Stocker et al., 201318 | |
OCTN1 (SLC22A4) | rs272893 | c.917C>T | T306I | 0.41 | Yoon et al., 201314 |
rs1050152 | c.1507C>T | L503F | 0.39 | Tzvetkov et al., 200928 |
Minor alleles are shown in bold. dbSNP, single nucleotide polymorphism database; ID, identification; MAF, minor allele frequency; MATE1, multidrug and toxin extrusion transporter; OCT1, organic cation transporter.
Minor allele frequencies from 1000 Genome Project Phase 3 EUR population (www.ncbi.nlm.nih.gov/projects/SNP).