Highly differentiated heterozygous state of functional SNPs. Listed below are the SNPs with low heterozygosity in Han Chinese population (<5%) but high heterozygosity (>15%) in at least one of the five northwestern Chinese populations
| rsID | Gene | He_CHB (%) | He_HUI (%) | He_KGZ (%) | He_KZK (%) | He_UIG (%) | He_TJK (%) | He_CEU (%) | Function | Type | Substrate |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs9282564 | ABCB1 | 2.20 | 6.4 | 0.0 | 4.3 | 11.2 | 13.8 | 18.6 | Non-synonymous | FASS | Bisantrene |
| rs2235040 | ABCB1 | 6.50 | 15.3 | 4.3 | 8.5 | 15.3 | 19.0 | 26.3 | Intron_variant | NFASS | Amitriptyline |
| rs7089580 | CYP2C9 | 4.40 | 6.4 | 14.1 | 14.3 | 19.1 | 19.0 | 34.8 | Intron_variant | NFASS | Warfarin |
| rs1799929 | NAT2 | 4.40 | 6.4 | 15.9 | 19.8 | 44.4 | 26.8 | 48.4 | Synonymous | NFASS | Isoniazid |
| rs1208 | NAT2 | 4.40 | 12.4 | 21.1 | 18.0 | 42.7 | 39.0 | 48.0 | Non-synonymous | FAAS | Isoniazid |
| rs1344279 | SLC15A2 | 9.60 | 15.3 | 14.1 | 23.1 | 35.0 | 31.0 | 32.6 | Intron | FNAS | – |
| rs11045819 | SLCO1B1 | 1.10 | 0.0 | 0.0 | 8.5 | 9.1 | 20.7 | 30.3 | Non-synonymous | FASS | Fluvastatin |
| rs7435335 | UGT2B7 | 5.50 | 3.3 | 12.2 | 6.4 | 21.0 | 32.3 | 28.1 | Intron_variant | FNAS | – |
| rs17822931 | ABCC11 | 6.50 | 18.0 | 40.5 | 48.4 | 48.6 | 38.0 | 19.0 | Non-synonymous | FNAS | – |
| rs4773866 | ABCC4 | 8.60 | 6.4 | 2.2 | 10.5 | 21.0 | 25.4 | 15.0 | Intron | NFASS | – |
| rs1800440 | CYP1B1 | 2.20 | 3.3 | 15.9 | 23.1 | 36.3 | 45.6 | 30.6 | Non-synonymous | FASS | Capecitabine |
| rs41507953 | EPHX2 | 1.10 | 0.0 | 2.2 | 6.4 | 9.1 | 22.3 | 15.5 | Non-synonymous | FNAS | – |
| rs4253778 | PPARA | 0.00 | 3.3 | 12.2 | 4.3 | 21.0 | 13.8 | 31.3 | Intron_variant | NFASS | Fenofibrate |
| rs1801282 | PPARG | 8.60 | 15.3 | 15.9 | 19.8 | 13.3 | 32.3 | 19.0 | Non-synonymous | FASS | Pioglitazone |
HUI, Hui; KGZ, Kirgiz; KZK, Kazakh; TJK, Tajik; UIG, Uyghur.