| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057519379 | 0.882 | 0.080 | 3 | 41233777 | frameshift variant | -/C | ins | 2 | |||
| rs1057519380 | 0.925 | 0.080 | 3 | 41239137 | stop gained | -/TAGCTATCGTTCTTTT | delins | 2 | |||
| rs1057519836 | 3 | 41224630 | missense variant | A/C;G;T | snv | 2 | |||||
| rs1057519837 | 1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv | 2 | |||
| rs1057519886 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 11 | |||
| rs1064796453 | 3 | 41235799 | stop gained | C/A;T | snv | 2 | |||||
| rs1131692181 | 0.925 | 0.040 | 3 | 41234286 | stop gained | C/T | snv | 1 | |||
| rs121913228 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 11 | |||
| rs121913394 | 1.000 | 0.040 | 3 | 41224549 | missense variant | G/A | snv | 1 | |||
| rs121913395 | 1.000 | 0.040 | 3 | 41224573 | missense variant | G/A | snv | 1 | |||
| rs121913396 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 11 | |||
| rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 | |||
| rs121913400 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 17 | |||
| rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 13 | |||
| rs121913407 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 10 | |||
| rs121913409 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 9 | |||
| rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 10 | |||
| rs121913413 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 9 | |||
| rs121913416 | 1.000 | 0.040 | 3 | 41224575 | inframe deletion | TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- | delins | 1 | |||
| rs121913417 | 1.000 | 0.040 | 3 | 41224583 | inframe deletion | GGCAGCAACAGTCTTACCTGGACT/- | delins | 1 | |||
| rs1369821061 | 1.000 | 3 | 41224980 | stop gained | C/A;T | snv | 1 | ||||
| rs1553630279 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 7 | |||
| rs1553630304 | 1.000 | 3 | 41225138 | stop gained | -/CAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC | delins | 1 | ||||
| rs1553630472 | 1.000 | 3 | 41225721 | stop gained | C/T | snv | 1 | ||||
| rs1553630507 | 1.000 | 3 | 41225790 | frameshift variant | ACA/CC | delins | 1 |