Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs148723879 | 10 | 69246212 | missense variant | C/T | snv | 9.9E-05 | 1.2E-04 | 1 | |||
rs1430282035 | 20 | 34996388 | missense variant | G/A | snv | 8.3E-06 | 1 | ||||
rs1441937959 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 19 | ||
rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
rs760929207 | 0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 | 12 | |
rs776780438 | 19 | 58480401 | stop gained | G/A | snv | 8.1E-06 | 4.9E-05 | 1 | |||
rs606231416 | 0.882 | 0.160 | 14 | 105241282 | missense variant | G/A | snv | 8.1E-06 | 7 | ||
rs748323629 | 1 | 19151825 | missense variant | T/C | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs370270828 | 0.882 | 0.160 | 14 | 105241292 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 7 | |
rs397509426 | 0.882 | 0.080 | 3 | 49723632 | missense variant | G/A | snv | 8.0E-05 | 7.0E-06 | 7 | |
rs267606706 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 6 | ||
rs119473033 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 11 | |
rs759951698 | 14 | 23139485 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 1 | |||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 42 | ||
rs377314861 | 18 | 21440307 | missense variant | C/T | snv | 6.3E-06 | 1 | ||||
rs189150283 | 0.925 | 22 | 20992304 | stop gained | C/T | snv | 6.0E-05 | 7.0E-05 | 3 | ||
rs139632595 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 19 | |
rs373730800 | 0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 | 4 | |||
rs377035972 | 14 | 24155679 | missense variant | G/A | snv | 5.6E-05 | 9.8E-05 | 1 | |||
rs761191483 | X | 54757697 | stop gained | G/A;C | snv | 5.4E-06 | 1 | ||||
rs149830411 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 15 | |
rs1469540056 | 22 | 20982433 | missense variant | G/C;T | snv | 5.1E-06 | 1 | ||||
rs778037798 | 3 | 73388079 | non coding transcript exon variant | A/G | snv | 4.9E-05 | 3.5E-05 | 1 | |||
rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
rs773956500 | 20 | 62322722 | missense variant | T/C | snv | 4.3E-05 | 2.9E-05 | 1 |