| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918327 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 12 | |
| rs752762669 | 0.925 | 0.120 | 4 | 122743422 | inframe deletion | CAGATGCAA/- | delins | 4.0E-05 | 8.4E-05 | 2 | |
| rs770872200 | 0.925 | 0.120 | 4 | 122742574 | frameshift variant | -/T | ins | 1.4E-05 | 2 | ||
| rs587777803 | 0.925 | 0.120 | 4 | 122743006 | frameshift variant | TT/- | delins | 2 | |||
| rs1553941369 | 0.925 | 0.120 | 4 | 122742900 | frameshift variant | GT/- | delins | 2 | |||
| rs752202089 | 0.925 | 0.120 | 4 | 122743915 | stop gained | C/T | snv | 8.1E-06 | 7.0E-06 | 2 | |
| rs1269565757 | 0.925 | 0.120 | 4 | 122743267 | stop gained | C/T | snv | 1.4E-05 | 2 | ||
| rs1397714772 | 0.925 | 0.120 | 4 | 122742155 | frameshift variant | TT/- | delins | 1.4E-05 | 2 | ||
| rs1381368546 | 1.000 | 0.120 | 4 | 122741996 | stop gained | C/A | snv | 1.2E-05 | 1 | ||
| rs565073445 | 1.000 | 0.120 | 4 | 122741957 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs138011813 | 0.925 | 0.120 | 4 | 122743394 | missense variant | C/T | snv | 3.6E-05 | 2.0E-04 | 1 | |
| rs767068756 | 1.000 | 0.120 | 4 | 122742947 | missense variant | A/C;G | snv | 4.8E-05 | 1 | ||
| rs1339432710 | 1.000 | 0.120 | 4 | 122742561 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs746478265 | 1.000 | 0.120 | 4 | 122743945 | frameshift variant | ACAG/- | delins | 1 | |||
| rs587777802 | 1.000 | 0.120 | 4 | 122743374 | frameshift variant | GA/- | delins | 1 | |||
| rs1553941391 | 1.000 | 0.120 | 4 | 122743032 | frameshift variant | AG/- | del | 1 | |||
| rs1553941540 | 1.000 | 0.120 | 4 | 122743686 | frameshift variant | C/- | delins | 1 | |||
| rs1553941404 | 1.000 | 0.120 | 4 | 122743043 | frameshift variant | G/- | del | 1 | |||
| rs121918328 | 1.000 | 0.120 | 4 | 122742757 | missense variant | G/C | snv | 1.2E-05 | 1 | ||
| rs1553941150 | 1.000 | 0.120 | 4 | 122741894 | start lost | T/C | snv | 1 | |||
| rs1553941433 | 1.000 | 0.120 | 4 | 122743210 | frameshift variant | -/TGTGATG | delins | 1 | |||
| rs766741204 | 1.000 | 0.120 | 4 | 122743177 | frameshift variant | TAAG/- | delins | 4.0E-06 | 2.1E-05 | 1 | |
| rs1553941580 | 1.000 | 0.120 | 4 | 122743841 | stop gained | C/G | snv | 1 | |||
| rs756061536 | 1.000 | 0.120 | 4 | 122741940 | frameshift variant | -/C | delins | 4.0E-06 | 1 | ||
| rs1553941279 | 1.000 | 0.120 | 4 | 122742457 | frameshift variant | -/T | delins | 1 |