| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121912438 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 58 | ||
| rs938050921 | 0.827 | 0.120 | 6 | 24357658 | missense variant | C/T | snv | 8.1E-06 | 5 | ||
| rs730880299 | 0.925 | 6 | 24290987 | stop gained | T/A | snv | 2 | ||||
| rs904944428 | 0.925 | 0.120 | 6 | 24301743 | frameshift variant | T/-;TT | delins | 2 | |||
| rs757704417 | 0.925 | 6 | 24357627 | frameshift variant | AC/- | delins | 1.6E-05 | 7.0E-06 | 2 | ||
| rs1256045225 | 0.925 | 0.080 | 16 | 31202598 | synonymous variant | C/T | snv | 7.0E-06 | 2 | ||
| rs1050411259 | 1.000 | 6 | 24278081 | stop gained | A/T | snv | 8.0E-06 | 1 | |||
| rs1554117600 | 1.000 | 6 | 24301715 | splice acceptor variant | TGAACAGCCCCGCTCCTCAGAGTGATTTTTTCTGTGACCATTTGTAGTACATGATCCCACTGATTCAAGGTTTTTCTGGGGATAAGGAGGCGAGAAGCTGGGTTTATGAGGTCTCCATTTGCAATCAAGCTG/- | delins | 1 | ||||
| rs1042640142 | 1.000 | 6 | 24357700 | missense variant | C/G;T | snv | 1 |