| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs965522059 | 0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 | 8 | ||
| rs915737037 | 0.925 | 0.200 | 12 | 123686922 | frameshift variant | -/CTCTGCTC | delins | 2.1E-05 | 2 | ||
| rs905262279 | 1.000 | 0.160 | 6 | 135448418 | stop gained | AA/- | del | 4.0E-06 | 7.0E-06 | 1 | |
| rs886043303 | 0.851 | 0.200 | 12 | 88120121 | frameshift variant | CTCT/- | delins | 7.0E-06 | 5 | ||
| rs886039811 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
| rs886039810 | 0.851 | 0.480 | 8 | 93809830 | missense variant | G/C | snv | 5 | |||
| rs886039809 | 0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del | 11 | |||
| rs886039808 | 0.851 | 0.480 | 12 | 88083848 | stop gained | C/T | snv | 5 | |||
| rs886039807 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 11 | ||
| rs886039794 | 0.851 | 0.480 | 8 | 85109594 | splice acceptor variant | G/C | snv | 8 | |||
| rs878855006 | 1.000 | 0.160 | 16 | 53664993 | frameshift variant | G/- | delins | 1 | |||
| rs864309712 | 0.925 | 0.160 | 16 | 27749634 | stop gained | C/T | snv | 2 | |||
| rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
| rs863225222 | 0.925 | 0.160 | 12 | 123671311 | frameshift variant | G/-;GG | delins | 2 | |||
| rs863225221 | 1.000 | 0.160 | 12 | 123695276 | stop gained | G/T | snv | 1 | |||
| rs863225220 | 1.000 | 0.160 | 12 | 123704545 | frameshift variant | T/- | del | 4.0E-06 | 7.1E-06 | 1 | |
| rs863225214 | 1.000 | 0.160 | 13 | 72917105 | frameshift variant | C/- | del | 1 | |||
| rs863225210 | 0.925 | 0.320 | 17 | 58207906 | missense variant | G/A | snv | 1 | |||
| rs863225209 | 1.000 | 0.160 | 17 | 58213072 | frameshift variant | -/G | ins | 1 | |||
| rs863225208 | 0.925 | 0.320 | 17 | 58210988 | missense variant | C/T | snv | 1 | |||
| rs863225207 | 1.000 | 0.160 | 17 | 58206172 | splice acceptor variant | T/A | snv | 1 | |||
| rs863225206 | 1.000 | 0.160 | 17 | 58216124 | frameshift variant | G/- | delins | 1 | |||
| rs863225205 | 0.925 | 0.320 | 17 | 58219176 | missense variant | C/A | snv | 1 | |||
| rs863225204 | 1.000 | 0.160 | 17 | 58206342 | frameshift variant | -/G | delins | 1 | |||
| rs863225183 | 0.851 | 0.240 | 12 | 88111799 | frameshift variant | T/- | delins | 7.0E-06 | 4 |