| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
| rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 107 | ||
| rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 92 | |
| rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
| rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
| rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
| rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 26 | |||
| rs1057519902 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 13 | |||
| rs1553260624 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 13 | |||
| rs2235544 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 10 | ||
| rs1052576 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 9 | ||
| rs1373481065 | 0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
| rs374052197 | 0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 | 5 | ||
| rs621559 | 0.827 | 0.080 | 1 | 43179740 | intron variant | G/A | snv | 0.18 | 5 | ||
| rs745934102 | 0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 5 | |
| rs4845964 | 1.000 | 0.040 | 1 | 10920487 | regulatory region variant | G/A | snv | 0.36 | 2 | ||
| rs1048771 | 1.000 | 0.040 | 1 | 46278228 | synonymous variant | C/A;T | snv | 4.0E-06; 0.15 | 1 | ||
| rs2427824 | 1.000 | 0.040 | 1 | 159295272 | intron variant | T/C | snv | 0.79 | 1 | ||
| rs2494262 | 1.000 | 0.040 | 1 | 159283882 | upstream gene variant | C/A;G | snv | 1 | |||
| rs781754593 | 1.000 | 0.040 | 1 | 12202039 | missense variant | A/G | snv | 4.2E-06 | 1 | ||
| rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 114 | ||
| rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 83 | ||
| rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 40 |