Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs755081350 | 1 | 39485559 | missense variant | G/A | snv | 1.6E-05 | 1 | ||||
rs761960636 | 1 | 19094058 | missense variant | G/T | snv | 3.2E-05 | 1 | ||||
rs765435034 | 1 | 184694431 | missense variant | C/A | snv | 2.9E-05 | 1 | ||||
rs776593168 | 1 | 19167086 | missense variant | G/A;C | snv | 1.2E-05; 1.2E-05 | 1 | ||||
rs782144677 | 1 | 147285398 | frameshift variant | A/- | del | 2.8E-05 | 2.1E-05 | 1 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs397517148 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 26 | |||
rs527656756 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 21 | |
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs137852814 | 0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 | 16 | ||
rs587777630 | 0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv | 15 | |||
rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
rs760929207 | 0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 | 12 | |
rs119473033 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 11 | |
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs748106387 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 9 | ||
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 8 | |||
rs1057518950 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 7 | |||
rs1559155800 | 1.000 | 0.200 | 2 | 219568150 | missense variant | C/T | snv | 7 | |||
rs1553370918 | 0.851 | 0.360 | 2 | 15945602 | frameshift variant | TG/- | delins | 6 | |||
rs397517150 | 0.827 | 0.160 | 2 | 39023118 | missense variant | A/C;G | snv | 6 | |||
rs727505381 | 0.925 | 0.160 | 2 | 39013523 | missense variant | A/G | snv | 4.0E-06 | 4 | ||
rs1553538488 | 1.000 | 0.200 | 2 | 219570542 | frameshift variant | -/G | delins | 2 | |||
rs1558553140 | 2 | 42659795 | missense variant | G/A | snv | 1 | |||||
rs114925667 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 62 |