Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs374403765 | 1.000 | 0.120 | 6 | 128883247 | start lost | T/C | snv | 1.4E-05 | 1 | ||
| rs886061039 | 1.000 | 0.120 | 6 | 128883306 | stop gained | C/G;T | snv | 1 | |||
| rs1360796756 | 1.000 | 0.120 | 6 | 128883351 | stop gained | C/G;T | snv | 4.7E-06 | 1 | ||
| rs398123367 | 1.000 | 0.120 | 6 | 128883358 | splice donor variant | G/A | snv | 1.9E-05 | 7.0E-06 | 1 | |
| rs191899712 | 1.000 | 0.120 | 6 | 129049954 | missense variant | C/T | snv | 4.0E-05 | 4.2E-05 | 1 | |
| rs1018100729 | 1.000 | 0.120 | 6 | 129050088 | stop gained | C/T | snv | 1 | |||
| rs200288072 | 1.000 | 0.120 | 6 | 129050089 | splice donor variant | G/A | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs1441933780 | 1.000 | 0.120 | 6 | 129059829 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
| rs535635043 | 1.000 | 0.120 | 6 | 129059863 | stop gained | C/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs770617208 | 1.000 | 0.120 | 6 | 129059897 | splice donor variant | G/T | snv | 2.4E-05 | 7.0E-06 | 1 | |
| rs1554217494 | 1.000 | 0.120 | 6 | 129098169 | splice acceptor variant | CTAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATG/- | del | 1 | |||
| rs553221833 | 1.000 | 0.120 | 6 | 129098274 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs1296761337 | 1.000 | 0.120 | 6 | 129143900 | splice acceptor variant | G/A;T | snv | 1 | |||
| rs145465528 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 7 | |
| rs886043648 | 1.000 | 0.120 | 6 | 129144078 | stop gained | A/T | snv | 1 | |||
| rs1554226186 | 1.000 | 0.120 | 6 | 129144081 | splice donor variant | G/A | snv | 1 | |||
| rs1562275792 | 1.000 | 0.120 | 6 | 129146964 | frameshift variant | C/- | del | 1 | |||
| rs1209130981 | 1.000 | 0.120 | 6 | 129149008 | frameshift variant | AT/- | del | 2.8E-05 | 2 | ||
| rs1554227092 | 1.000 | 0.120 | 6 | 129149020 | frameshift variant | -/CT | ins | 1 | |||
| rs1064797327 | 1.000 | 0.120 | 6 | 129149097 | splice donor variant | G/A;T | snv | 1 | |||
| rs1338860420 | 1.000 | 0.120 | 6 | 129154599 | frameshift variant | A/- | del | 1 | |||
| rs1374568851 | 1.000 | 0.120 | 6 | 129165669 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
| rs773209126 | 1.000 | 0.120 | 6 | 129165672 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 | 1 | |
| rs1326401124 | 1.000 | 0.120 | 6 | 129165677 | splice donor variant | T/G | snv | 4.0E-06 | 1 | ||
| rs1554234051 | 1.000 | 0.120 | 6 | 129177705 | splice acceptor variant | G/A | snv | 1 |