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 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs893924483 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 23 | |
rs6314 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 23 | |
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 14 | |
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
rs397514679 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 9 | |||
rs6323 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 7 | ||
rs301430 | 0.827 | 0.080 | 9 | 4576680 | synonymous variant | T/C | snv | 0.36 | 0.38 | 7 | |
rs2168351 | 0.851 | 0.120 | 15 | 92440492 | intron variant | A/G | snv | 0.33 | 6 | ||
rs3784730 | 0.851 | 0.120 | 15 | 92443898 | intron variant | A/G | snv | 0.44 | 6 | ||
rs4307059 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 5 | |||
rs2279357 | 0.851 | 0.160 | 15 | 74338282 | intron variant | T/C | snv | 0.69 | 5 | ||
rs779545541 | 0.882 | 0.120 | 14 | 66965293 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs1414334 | 0.851 | 0.160 | X | 114903581 | intron variant | C/G | snv | 5 | |||
rs141441277 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 5 | |
rs6551665 | 0.882 | 0.040 | 4 | 61873823 | intron variant | G/A | snv | 0.59 | 4 |