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. 2017 Jan 3;12(1):e0169233. doi: 10.1371/journal.pone.0169233

Table 1. Loci and alleles detected by the assays.

Gene Allele dbSNP Number Major Nucleotide Variation Effect Enzyme Activity
CYP2C9 *2 rs1799853 c. 430C>T R144C Decreased
*3 rs1057910 c. 1075A>C I359L Decreased
*4 rs56165452 c. 1076T>C I359T Decreased
*5 rs28371686 c. 1080C>G D360E Decreased
*6 rs9332131 c. 818delA 273 Frameshift None
CYP2C19 *2 rs4244285 c. 681G>A Splicing defect None
*3 rs4986893 c. 636G>A W212X None
*4 rs28399504 c. 1A>G M1V None
*5 rs56337013 c. 1297C>T R433W None
*6 rs72552267 c. 395G>A R132Q None
*7 rs72558186 c. 819+2T>A Splicing defect None
*8 rs41291556 c. 358T>C W120R None
*9 rs28399507 c. 431G>A R144H Decreased
*10 rs6413438 c. 680C>T P227L Decreased
*17 rs12248560 c. -806C>T Increased expression Increased
CYP2D6 *2 rs16947, rs1135840 2850C>T, 4180G>C R296C, S486T Normal
*2A rs1080985, rs16947, rs1135840 -1584C>G, 2850C>T, 4180G>C R296C, S486T Normal
*3 rs35742686 2549delA 259 Frameshift None
*4 rs1065852, rs3892097, rs1135840 100C>T, 1846G>A, 4180G>C P34S, Splicing defect, S486T None
*5 n/a n/a Gene deletion None
*6 rs5030655 1707delT 118 Frameshift None
*7 rs5030867 2935A>C H324P None
*8 rs5030865, rs16947, rs1135840 1758G>T, 2850C>T, 4180G>C G169X, R296C, S486T None
*9 rs5030656 2615_2617delAAG K281del Decreased
*10 rs1065852, rs1135840 100C>T, 4180G>C P34S, S486T Decreased
*14 rs5030865, rs16947, rs1135840 1758G>A, 2850C>T, 4180G>C G169R, R296C, S486T None
*17 rs28371706, rs16947, rs1135840 1023C>T, 2850C>T, 4180G>C T107I, R296C, S486T Decreased
*29 rs16947, rs59421388, rs1135840 2850C>T, 3183G>A, 4180G>C R296C, V338M, S486T Decreased
*35 rs769258, rs16947, rs1135840 31G>A, 2850C>T, 4180G>C V11M, R296C, S486T Normal
*36 rs1065852, rs1135840 100C>T, 4180G>C, recombination at exon 9 P34S, S486T, CYP2D6-2D7 hybrid None
*41 rs16947, rs28371725, rs1135840 2850C>T, 2988G>A, 4180G>C R296C, Splicing defect, S486T Decreased
CYP3A5 *3 rs776746 6986A>G Splicing defect None
VKORC1 *2 rs9923231 c. -1639G>A Decreased