Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs397514698 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 52 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs1057519927 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 19 | |||
rs1565706229 | 0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv | 18 | |||
rs587777308 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 14 | |||
rs28940579 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 13 | ||
rs867262025 | 0.790 | 0.360 | 3 | 179221146 | missense variant | G/A | snv | 10 | |||
rs61752992 | 0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins | 9 | |||
rs1057515572 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 8 | |||
rs1060500126 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 8 | |||
rs767350733 | 0.882 | 0.120 | 2 | 201724392 | stop gained | G/A | snv | 2.0E-05 | 7 | ||
rs786204849 | 0.882 | 0.200 | 11 | 65885181 | stop gained | G/A | snv | 7 | |||
rs121918490 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 6 | |||
rs1566446604 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 6 | |||
rs113001196 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 5 | |||
rs886039908 | 0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins | 5 | |||
rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
rs1555179320 | 0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv | 4 |