Table 2. Description and allele frequencies of the studied variants.
| Gene (allele)b | dbsnp iD | Region | Effectc | Allele frequencya | |
|---|---|---|---|---|---|
| p | q | ||||
| SLCO1B3 | |||||
| 334T>G (*2) | rs4149117 | Exon 3 | S112A | 0.147 | 0.853 |
| 439A>G (*3) | N/A | Exon 4 | T147A | 0.995 | 0.005 |
| 699G>A (*4) | rs7311358 | Exon 6 | M233I | 0.159 | 0.841 |
| 767G>C (*5) | N/A | Exon 7 | G256A | 0.811 | 0.189 |
| 1559A>C (*6) | N/A | Exon 11 | H520P | 1.00 | 0 |
| 1679T>C (*7) | rs12299012 | Exon 11 | V560A | 0.984 | 0.016 |
| CYP3A4 | |||||
| −392A>G (*1B) | rs2740574 | 5′-Flanking | — | 0.951 | 0.049 |
| CYP3A5 | |||||
| 6986A>G (*3C) | rs776746 | Intron 3 | Frameshift | 0.076 | 0.924 |
| ABCB1 | |||||
| 1236C>T (*8) | rs1128503 | Exon 12 | G412G | 0.539 | 0.461 |
| 2677G>T/A (*7) | rs2032582 | Exon 21 | A893S/T | 0.556 | 0.422/0.022 |
| 3435C>T (*6) | rs1045642 | Exon 26 | I1145I | 0.478 | 0.522 |
| ABCC2 | |||||
| −1019A>G | rs2804402 | 5′-Flanking | — | 0.614 | 0.386 |
| −24C>T | rs717620 | 5′-UTR | — | 0.815 | 0.185 |
| 1249G>A | rs2273697 | Exon 10 | V417I | 0.789 | 0.211 |
| IVS26 −34T>C | rs8187698 | Intron 26 | Exon 26 | 0.946 | 0.054 |
| 3972C>T | rs3740066 | Exon 28 | I1324I | 0.647 | 0.353 |
| 4544G>Ad | rs8187710 | Exon 32 | C1515Y | 0.967 | 0.033 |
UTR, untranslated region; dbSNP, single-nucleotide polymorphism database.
a
Hardy–Weinberg notation for allele frequencies; p, frequency for reference allele and q, frequency for variant allele.
b
Number represents position in nucleotide sequence with star nomenclature in parentheses where available.
c
Number represents amino acid codon;
d
In complete linkage disequilibrium with the polymorphisms 3844-73A>G, 4146d+11G>C, 4290G>T (V1430V), 4488C>T (H1469H), and 4508+12G>A.