| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1052954321 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 5 | ||||
| rs61750138 | 1.000 | 1 | 94030991 | splice region variant | C/A;T | snv | 1.2E-05 | 3 | |||
| rs1553186896 | 1.000 | 1 | 94005490 | missense variant | A/C;G | snv | 2 | ||||
| rs1555955061 | X | 85965588 | intron variant | T/C | snv | 2 | |||||
| rs1556300621 | X | 107645286 | missense variant | C/T | snv | 2 | |||||
| rs199830550 | 1.000 | 16 | 57248644 | splice donor variant | G/A;C;T | snv | 1.2E-04; 4.6E-06; 4.6E-06 | 2 | |||
| rs61748552 | 1.000 | 1 | 94078611 | missense variant | G/C | snv | 8.0E-06 | 8.3E-06 | 2 | ||
| rs61750135 | 1.000 | 1 | 94031027 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 2 | ||
| rs727503715 | 1.000 | 1 | 215674537 | frameshift variant | T/- | delins | 1.4E-05 | 2 | |||
| rs756678484 | 1.000 | 10 | 84211139 | frameshift variant | G/- | delins | 6.0E-05 | 2 | |||
| rs758291149 | 3 | 101244651 | stop gained | A/G;T | snv | 2.4E-05 | 2.1E-05 | 2 | |||
| rs867288458 | X | 107645287 | missense variant | G/A;C | snv | 2 | |||||
| rs1064793014 | 1 | 94007707 | missense variant | T/C | snv | 1 | |||||
| rs111733491 | 2 | 169236027 | missense variant | C/A;G;T | snv | 8.0E-06; 3.6E-05 | 1 | ||||
| rs1189889920 | 3 | 121790208 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
| rs1196489060 | 4 | 16018318 | splice region variant | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | |||
| rs1356104318 | 1 | 94098850 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||||
| rs137853907 | 4 | 16000517 | stop gained | G/T | snv | 2.8E-05 | 8.4E-05 | 1 | |||
| rs1401818080 | 8 | 43197027 | splice region variant | -/A | delins | 4.0E-06; 1.2E-05 | 1.4E-05 | 1 | |||
| rs1435861529 | 6 | 63762538 | missense variant | C/T | snv | 2.1E-05 | 1 | ||||
| rs149071415 | 1 | 94047024 | missense variant | A/G | snv | 4.0E-05 | 8.4E-05 | 1 | |||
| rs1553190559 | 1 | 94042790 | missense variant | A/T | snv | 1 | |||||
| rs1553192432 | 1 | 94060712 | frameshift variant | -/C | delins | 1 | |||||
| rs1553249226 | 1 | 197328605 | missense variant | G/A | snv | 1 | |||||
| rs1553263218 | 1 | 197435404 | frameshift variant | -/G | delins | 1 |