| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060500990 | 19 | 48303645 | splice region variant | C/T | snv | 1.4E-05 | 1 | ||||
| rs1421531868 | 19 | 48312079 | frameshift variant | T/- | delins | 6.3E-06 | 1 | ||||
| rs753915759 | 19 | 48297656 | frameshift variant | -/G | delins | 1.4E-05 | 1 | ||||
| rs766394527 | 19 | 48297653 | frameshift variant | -/C | delins | 2.4E-05 | 1.4E-05 | 1 | |||
| rs1210953680 | 3 | 180652161 | splice donor variant | A/T | snv | 1 | |||||
| rs1275367324 | 3 | 180651409 | frameshift variant | C/- | del | 5.9E-06 | 1 | ||||
| rs1285431486 | 3 | 180642111 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||||
| rs1415346246 | 3 | 180659577 | splice acceptor variant | AACT/- | delins | 4.0E-06 | 1 | ||||
| rs1553803540 | 3 | 180641992 | splice donor variant | C/T | snv | 1 | |||||
| rs1553804100 | 3 | 180647254 | intron variant | T/C | snv | 1 | |||||
| rs1553804209 | 3 | 180648215 | frameshift variant | -/T | delins | 1 | |||||
| rs1553804220 | 3 | 180648285 | frameshift variant | C/- | del | 1 | |||||
| rs1553804640 | 3 | 180651533 | splice acceptor variant | C/- | delins | 1 | |||||
| rs1553805740 | 3 | 180659694 | frameshift variant | -/GT | delins | 1 | |||||
| rs1553805885 | 3 | 180660635 | frameshift variant | C/- | del | 1 | |||||
| rs1560086701 | 3 | 180641995 | frameshift variant | AT/- | delins | 1 | |||||
| rs1560090006 | 3 | 180652246 | frameshift variant | AGTGGCT/- | del | 1 | |||||
| rs1560092160 | 3 | 180659715 | frameshift variant | CT/- | delins | 1 | |||||
| rs1560092440 | 3 | 180660684 | stop gained | A/T | snv | 1 | |||||
| rs201780665 | 3 | 180642072 | stop gained | G/A;T | snv | 7.6E-05; 8.1E-06 | 1 | ||||
| rs577069249 | 3 | 180650140 | intron variant | T/C | snv | 5.0E-04 | 1 | ||||
| rs753580394 | 3 | 180644119 | splice donor variant | C/T | snv | 6.8E-06 | 1 | ||||
| rs756235547 | 3 | 180659582 | splice acceptor variant | T/C | snv | 1.2E-04 | 8.4E-05 | 1 | |||
| rs769223754 | 3 | 180641993 | missense variant | C/A;T | snv | 7.0E-05; 4.3E-06 | 1 | ||||
| rs778577109 | 3 | 180661932 | stop gained | G/A | snv | 5.2E-06 | 7.0E-06 | 1 |