Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs137852834 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 13 | |
rs376493409 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 12 | ||
rs281865192 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 11 | ||
rs539400286 | 0.763 | 0.280 | 12 | 88086083 | stop gained | G/A | snv | 1.6E-05 | 2.1E-05 | 9 | |
rs1170451277 | 0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 | 8 | ||
rs760915898 | 0.776 | 0.280 | 12 | 88086038 | splice donor variant | C/T | snv | 5.4E-05 | 9.1E-05 | 8 | |
rs776645403 | 0.776 | 0.280 | 12 | 88125357 | stop gained | G/A | snv | 3.8E-05 | 2.1E-05 | 8 | |
rs965522059 | 0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 | 8 | ||
rs386834180 | 0.776 | 0.360 | 8 | 93781725 | missense variant | T/C | snv | 2.0E-05 | 4.2E-05 | 8 | |
rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs771454167 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 6 | |
rs575767207 | 0.827 | 0.280 | 12 | 88079112 | stop gained | G/A;C | snv | 2.6E-05 | 5 | ||
rs267606719 | 0.925 | 0.240 | 12 | 88077227 | stop gained | C/A | snv | 2 | |||
rs771266705 | 1.000 | 0.120 | 12 | 88120213 | frameshift variant | TTTTA/- | delins | 6.7E-06 | 1 |