Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs886041346 | 1.000 | 0.120 | 17 | 31095311 | start lost | T/A;C;G | snv | 1 | |||
| rs1060500252 | 1.000 | 0.120 | 17 | 31095310 | start lost | A/G | snv | 1 | |||
| rs1555594500 | 1.000 | 0.120 | 17 | 31095370 | splice donor variant | G/T | snv | 1 | |||
| rs1567786829 | 1.000 | 0.120 | 17 | 31095335 | stop gained | G/A | snv | 1 | |||
| rs1057517848 | 1.000 | 0.120 | 17 | 31227294 | splice region variant | A/G | snv | 1 | |||
| rs1057518326 | 1.000 | 0.120 | 17 | 31325819 | splice acceptor variant | G/A;C | snv | 1 | |||
| rs1057518360 | 1.000 | 0.120 | 17 | 31181420 | splice acceptor variant | A/G;T | snv | 1 | |||
| rs1057518884 | 1.000 | 0.120 | 17 | 31155990 | frameshift variant | T/- | del | 1 | |||
| rs1057521098 | 1.000 | 0.120 | 17 | 31200598 | splice region variant | A/G | snv | 1 | |||
| rs1057523533 | 1.000 | 0.120 | 17 | 31338805 | missense variant | G/A;C;T | snv | 1 | |||
| rs1060500245 | 1.000 | 0.120 | 17 | 31181490 | splice donor variant | G/A;T | snv | 1 | |||
| rs1060500254 | 1.000 | 0.120 | 17 | 31229148 | missense variant | T/C | snv | 1 | |||
| rs1060500255 | 1.000 | 0.120 | 17 | 31325997 | stop gained | C/A;T | snv | 1 | |||
| rs1060500266 | 1.000 | 0.120 | 17 | 31338703 | splice acceptor variant | G/C | snv | 1 | |||
| rs1060500268 | 1.000 | 0.120 | 17 | 31337875 | frameshift variant | T/- | del | 1 | |||
| rs1060500271 | 1.000 | 0.120 | 17 | 31233071 | frameshift variant | A/- | delins | 1 | |||
| rs1060500273 | 1.000 | 0.120 | 17 | 31230259 | splice acceptor variant | G/A;C | snv | 1 | |||
| rs1060500274 | 1.000 | 0.120 | 17 | 31181786 | splice donor variant | G/A;C;T | snv | 1 | |||
| rs1060500276 | 1.000 | 0.120 | 17 | 31233144 | inframe deletion | AAT/- | del | 1 | |||
| rs1060500278 | 1.000 | 0.120 | 17 | 31223448 | stop gained | C/T | snv | 1 | |||
| rs1060500284 | 1.000 | 0.120 | 17 | 31170002 | splice region variant | G/A;C | snv | 1 | |||
| rs1060500286 | 1.000 | 0.120 | 17 | 31343053 | stop gained | G/A | snv | 1 | |||
| rs1060500292 | 1.000 | 0.120 | 17 | 31261731 | frameshift variant | G/- | del | 1 | |||
| rs1060500295 | 1.000 | 0.120 | 17 | 31356540 | frameshift variant | C/-;CC | delins | 1 | |||
| rs1060500300 | 1.000 | 0.120 | 17 | 31349250 | frameshift variant | A/- | del | 1 |