| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs755287627 | 1.000 | 0.120 | 4 | 113353494 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs796052197 | 1.000 | 0.120 | 4 | 113354767 | missense variant | T/C | snv | 1 | |||
| rs796052198 | 1.000 | 0.120 | 4 | 113356741 | missense variant | T/C | snv | 1 | |||
| rs1408198357 | 1.000 | 0.120 | 4 | 113373391 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs199830292 | 0.882 | 0.120 | 11 | 128916630 | missense variant | G/C | snv | 1.7E-04 | 7.7E-05 | 3 | |
| rs762510312 | 0.925 | 0.120 | 7 | 150946956 | missense variant | G/A;C | snv | 4.8E-05; 1.2E-05 | 3 | ||
| rs794728470 | 1.000 | 0.120 | 7 | 150947367 | frameshift variant | -/TCGCCCCG | delins | 1.4E-05 | 2 | ||
| rs794728466 | 1.000 | 0.120 | 7 | 150947371 | frameshift variant | CCGGGGCCGCC/-;CCGGGGCCGCCCCGGGGCCGCC | delins | 1.4E-05 | 1 | ||
| rs794728469 | 1.000 | 0.120 | 7 | 150947373 | frameshift variant | C/-;CC;CCC;CCCC;CCCCC | delins | 1 | |||
| rs794728468 | 1.000 | 0.120 | 7 | 150947377 | frameshift variant | G/- | delins | 1 | |||
| rs1554424070 | 1.000 | 0.120 | 7 | 150947378 | frameshift variant | CGCCGACCCGGGC/- | delins | 1 | |||
| rs1554424079 | 1.000 | 0.120 | 7 | 150947381 | frameshift variant | -/GC | delins | 1 | |||
| rs1554424083 | 1.000 | 0.120 | 7 | 150947383 | frameshift variant | -/ACCCG | delins | 1 | |||
| rs864622309 | 1.000 | 0.120 | 7 | 150947386 | frameshift variant | G/- | del | 1 | |||
| rs864622174 | 1.000 | 0.120 | 7 | 150947420 | frameshift variant | G/-;GG | delins | 1 | |||
| rs1554424138 | 1.000 | 0.120 | 7 | 150947426 | frameshift variant | G/- | delins | 1 | |||
| rs794728403 | 1.000 | 0.120 | 7 | 150947440 | stop gained | G/A | snv | 7.0E-06 | 1 | ||
| rs1057520558 | 1.000 | 0.120 | 7 | 150947453 | stop gained | G/C | snv | 1 | |||
| rs794728504 | 1.000 | 0.120 | 7 | 150947463 | frameshift variant | C/- | delins | 1 | |||
| rs794728401 | 1.000 | 0.120 | 7 | 150947478 | stop gained | C/G;T | snv | 1 | |||
| rs748706373 | 1.000 | 0.120 | 7 | 150947611 | frameshift variant | AG/- | del | 1 | |||
| rs761585108 | 1.000 | 0.120 | 7 | 150947640 | stop gained | G/A;C;T | snv | 1.6E-05; 8.2E-06 | 1 | ||
| rs786204101 | 1.000 | 0.120 | 7 | 150947670 | frameshift variant | -/G | delins | 1 | |||
| rs1064795287 | 0.925 | 0.120 | 7 | 150947683 | frameshift variant | GG/T | delins | 2 | |||
| rs199473014 | 0.925 | 0.120 | 7 | 150947684 | missense variant | G/T | snv | 2.1E-05 | 2 |