| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1114167361 | 0.827 | 0.160 | 7 | 128845022 | missense variant | C/T | snv | 6 | |||
| rs1064795229 | 0.882 | 0.120 | 7 | 128844254 | frameshift variant | T/- | del | 3 | |||
| rs112903432 | 0.882 | 0.120 | 7 | 128842700 | splice donor variant | T/C;G | snv | 3 | |||
| rs1402879259 | 0.882 | 0.120 | 7 | 128848974 | splice donor variant | -/ACGTCACA | delins | 4.1E-06 | 1.4E-05 | 3 | |
| rs1420159591 | 0.882 | 0.120 | 7 | 128840055 | stop gained | C/T | snv | 3 | |||
| rs1446694237 | 0.882 | 0.120 | 7 | 128841511 | stop gained | G/A;T | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs1554397197 | 0.882 | 0.120 | 7 | 128835417 | stop gained | G/A | snv | 3 | |||
| rs1554398092 | 0.882 | 0.120 | 7 | 128840127 | frameshift variant | GGGGAGC/- | delins | 3 | |||
| rs1554398674 | 0.882 | 0.120 | 7 | 128842782 | splice acceptor variant | TTCTCTGCAGGCGACGTGAGCATCGGC/- | delins | 3 | |||
| rs1554399513 | 0.882 | 0.120 | 7 | 128846129 | frameshift variant | -/TACC | delins | 3 | |||
| rs1554400021 | 0.882 | 0.120 | 7 | 128848693 | frameshift variant | G/- | delins | 3 | |||
| rs1554400242 | 0.882 | 0.120 | 7 | 128849540 | frameshift variant | G/- | delins | 3 | |||
| rs1554400700 | 0.882 | 0.120 | 7 | 128851482 | frameshift variant | -/A | delins | 3 | |||
| rs1554401581 | 0.882 | 0.120 | 7 | 128855315 | splice donor variant | G/A | snv | 3 | |||
| rs1554401756 | 0.882 | 0.120 | 7 | 128856560 | stop gained | C/T | snv | 3 | |||
| rs1554401780 | 0.882 | 0.120 | 7 | 128856637 | frameshift variant | T/- | del | 3 | |||
| rs1554401830 | 0.882 | 0.120 | 7 | 128856856 | frameshift variant | -/TGCT | ins | 3 | |||
| rs1554401837 | 0.882 | 0.120 | 7 | 128856895 | frameshift variant | TCCTGGGCTCGAG/- | delins | 3 | |||
| rs1562988883 | 0.882 | 0.120 | 7 | 128830784 | frameshift variant | C/TCT | delins | 3 | |||
| rs1562991776 | 0.882 | 0.120 | 7 | 128837258 | splice donor variant | G/A | snv | 3 | |||
| rs1562998858 | 0.882 | 0.120 | 7 | 128847739 | frameshift variant | AAGG/- | delins | 3 | |||
| rs1562999451 | 0.882 | 0.120 | 7 | 128848601 | stop gained | A/T | snv | 3 | |||
| rs1563000044 | 0.882 | 0.120 | 7 | 128849348 | stop gained | C/T | snv | 3 | |||
| rs1563001456 | 0.882 | 0.120 | 7 | 128851345 | stop gained | A/T | snv | 3 | |||
| rs1563001548 | 0.882 | 0.120 | 7 | 128851454 | coding sequence variant | G/- | delins | 3 |