Table 1 Basic information of 48 selected VIP variants in the Zhuang population.
Genes | SNVs ID | Chr | BP | Functional consequence | Zhuang Allele | Genotype frequencies | MAF | |||
|---|---|---|---|---|---|---|---|---|---|---|
A | B | AA | AB | BB | ||||||
CYP2J2 | rs11572325 | 1 | 59,896,030 | Intron Variant | T | A | 0 (0.000) | 21 (0.105) | 179 (0.895) | 0.053 |
rs10889160 | 1 | 59,896,449 | Intron Variant | C | T | 1 (0.005) | 37 (0.185) | 162 (0.810) | 0.098 | |
rs890293 | 1 | 59,926,822 | Upstream Transcript Variant | A | C | 0 (0.000) | 11 (0.055) | 189 (0.945) | 0.028 | |
DPYD | rs1760217 | 1 | 97,137,438 | Genic Downstream Transcript Variant, Intron Variant | G | A | 11 (0.055) | 80 (0.400) | 109 (0.545) | 0.255 |
rs1801159 | 1 | 97,515,839 | Coding Sequence Variant, Genic Downstream Transcript Variant, Intron Variant, Missense Variant | C | T | 26 (0.131) | 90 (0.455) | 82 (0.414) | 0.359 | |
rs1801265 | 1 | 97,883,329 | Non-Coding Transcript Variant, Intron Variant, Coding Sequence Variant, 5 Prime UTR Variant, Missense Variant | G | A | 0 (0.000) | 40 (0.200) | 160 (0.800) | 0.100 | |
PTGS2 | rs5275 | 1 | 186,673,926 | 3 Prime UTR Variant | G | A | 9 (0.046) | 67 (0.340 | 121 (0.614) | 0.216 |
CACNA1S | rs12139527 | 1 | 201,040,054 | Missense Variant, Coding Sequence Variant, Intron Variant | G | A | 2 (0.010) | 36 (0.182) | 160 (0.808) | 0.101 |
rs3850625 | 1 | 201,047,168 | Coding Sequence Variant, Missense Variant | A | G | 1 (0.005) | 7 (0.035) | 192 (0.960) | 0.023 | |
RYR2 | rs2306238 | 1 | 237,550,803 | Intron Variant | A | G | 12 (0.060) | 62 (0.312) | 125 (0.628) | 0.216 |
ABCG2 | rs2231142 | 4 | 88,131,171 | Coding Sequence Variant, Missense Variant | T | G | 8 (0.040) | 65 (0.327) | 126 (0.633) | 0.204 |
rs2231137 | 4 | 88,139,962 | Coding Sequence Variant, Missense Variant | T | C | 27 (0.136) | 99 (0.497) | 73 (0.367) | 0.384 | |
ADH1C | rs698 | 4 | 99,339,632 | Coding Sequence Variant, Non-Coding Transcript Variant, Missense Variant | C | T | 2 (0.010) | 49 (0.245) | 149 (0.745) | 0.133 |
CYP3A5 | rs776746 | 7 | 99,672,916 | Intron Variant, splice acceptor variant, genic Downstream Transcript Variant, Downstream Transcript Variant | T | C | 19 (0.095) | 1 (0.005) | 180 (0.900) | 0.098 |
CYP3A4 | rs2242480 | 7 | 99,763,843 | Intron Variant | T | C | 16 (0.08) | 83 (0.415) | 101 (0.505) | 0.288 |
NAT2 | rs4646244 | 8 | 18,390,208 | Upstream Transcript Variant, Genic Upstream Transcript Variant, Intron Variant | A | T | 7 (0.035) | 66 (0.330) | 127 (0.635) | 0.200 |
rs4271002 | 8 | 18,390,758 | Upstream Transcript Variant, Genic Upstream Transcript Variant, Intron Variant | C | G | 4 (0.020) | 50 (0.253) | 144 (0.727) | 0.146 | |
rs1041983 | 8 | 18,400,285 | Coding Sequence Variant, Synonymous Variant | T | C | 24 (0.120) | 96 (0.480) | 80 (0.400) | 0.360 | |
rs1801280 | 8 | 18,400,344 | Missense Variant, Coding Sequence Variant | C | T | 1 (0.005) | 6 (0.030) | 193 (0.965) | 0.020 | |
rs1799929 | 8 | 18,400,484 | Coding Sequence Variant, Synonymous Variant | T | C | 1 (0.005) | 7 (0.035) | 192 (0.960) | 0.023 | |
rs1799930 | 8 | 18,400,593 | Missense Variant, Coding Sequence Variant | A | G | 7 (0.035) | 69 (0.347) | 123 (0.618) | 0.209 | |
rs1208 | 8 | 18,400,806 | Missense Variant, Coding Sequence Variant | G | A | 1 (0.005) | 7 (0.035) | 192 (0.960) | 0.023 | |
rs1799931 | 8 | 18,400,860 | Missense Variant, Coding Sequence Variant | A | G | 4 (0.020) | 50 (0.250) | 146 (0.730) | 0.145 | |
rs1495741 | 8 | 18,415,371 | None | A | G | 28 (0.146) | 90 (0.469) | 74 (0.385) | 0.380 | |
ALOX5 | rs2115819 | 10 | 45,405,641 | Intron Variant | A | G | 8 (0.040) | 36 (0.181) | 155 (0.779) | 0.131 |
CYP2C19 | rs12248560 | 10 | 94,761,900 | Upstream Transcript Variant | T | C | 0 (0.000) | 1 (0.005) | 199 (0.995) | 0.003 |
rs4244285 | 10 | 94,781,859 | Coding Sequence Variant, Synonymous Variant | A | G | 17 (0.085) | 85 (0.425) | 98 (0.490) | 0.298 | |
CYP2C8 | rs7909236 | 10 | 95,069,673 | Upstream Transcript Variant | T | G | 2 (0.010) | 44 (0.220) | 154 (0.770) | 0.120 |
rs17110453 | 10 | 95,069,772 | Upstream Transcript Variant | C | A | 11 (0.055) | 82 (0.410) | 107 (0.535) | 0.260 | |
CYP2E1 | rs3813867 | 10 | 133,526,101 | Non-Coding Transcript Variant, Upstream Transcript Variant | C | G | 4 (0.020) | 49 (0.245) | 147 (0.735) | 0.143 |
rs6413432 | 10 | 133,535,040 | Intron Variant | A | T | 0 (0.000) | 44 (0.229) | 148 (0.771) | 0.115 | |
rs2070676 | 10 | 133,537,633 | Intron Variant | G | C | 10 (0.050) | 57 (0.285) | 133 (0.665) | 0.193 | |
KCNJ11 | rs5219 | 11 | 17,388,025 | Missense Variant, Stop Gained, 5 Prime UTR Variant, Intron Variant, Coding Sequence Variant | T | C | 12 (0.061) | 123 (0.628) | 61 (0.311) | 0.375 |
SLCO1B1 | rs2306283 | 12 | 21,176,804 | Missense Variant, Coding Sequence Variant | A | G | 21 (0.106) | 71 (0.357) | 107 (0.538) | 0.284 |
CYP1A2 | rs762551 | 15 | 74,749,576 | Intron Variant | C | A | 12 (0.060) | 90 (0.450) | 98 (0.490) | 0.285 |
rs2472304 | 15 | 74,751,897 | Intron Variant | A | G | 2 (0.010) | 43 (0.216) | 154 (0.774) | 0.118 | |
SULT1A1 | rs750155 | 16 | 28,609,251 | 5 Prime UTR Variant, Intron Variant, Genic Upstream Transcript Variant, Upstream Transcript Variant | C | T | 28 (0.144) | 118 (0.608) | 48 (0.247) | 0.448 |
ACE | rs1800764 | 17 | 63,473,168 | None | C | T | 23 (0.116) | 102 (0.515) | 73 (0.369) | 0.374 |
rs4291 | 17 | 63,476,833 | Upstream Transcript Variant | T | A | 0 (0.000) | 177 (0.898) | 20 (0.102) | 0.449 | |
rs4267385 | 17 | 63,506,395 | None | T | C | 14 (0.070) | 71 (0.357) | 114 (0.573) | 0.249 | |
CYP4F2 | rs2108622 | 19 | 15,879,621 | Missense Variant, Coding Sequence Variant | T | C | 3 (0.015) | 66 (0.332) | 130 (0.653) | 0.181 |
rs3093105 | 19 | 15,897,578 | Missense Variant, Coding Sequence Variant | C | A | 0 (0.000) | 200 (1.000) | 0 (0.000) | 0.500 | |
CYP2A6 | rs8192726 | 19 | 40,848,591 | Intron Variant | A | C | 7 (0.035) | 63 (0.315) | 130 (0.650) | 0.193 |
SLC19A1 | rs1051298 | 21 | 45,514,912 | Intron Variant, 3 Prime UTR Variant | G | A | 34 (0.172) | 120 (0.606) | 44 (0.222) | 0.475 |
rs1051296 | 21 | 45,514,947 | Intron Variant, 3 Prime UTR Variant | A | C | 24 (0.122) | 131 (0.668) | 41 (0.209) | 0.457 | |
rs1131596 | 21 | 45,538,002 | Missense Variant, 5 Prime UTR Variant, Synonymous Variant, Genic Upstream Transcript Variant, Coding Sequence Variant | A | G | 32 (0.162) | 127 (0.644) | 38 (0.193) | 0.485 | |
CYP2D6 | rs1065852 | 22 | 42,130,692 | Intron Variant, Missense Variant, Coding Sequence Variant | A | G | 45 (0.238) | 117 (0.619) | 27 (0.143) | 0.452 |
KCNH2 | rs1805123 | 7 | 150,948,446 | Missense Variant, Coding Sequence Variant, Genic Downstream Transcript Variant | G | T | 151 (0.774) | 44 (0.226) | 0 (0.000) | 0.113 |
