Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1439299333 | 1.000 | 0.080 | 3 | 48580908 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs1559423385 | 1.000 | 0.080 | 3 | 48587423 | stop gained | G/A | snv | 1 | |||
| rs1559444716 | 1.000 | 0.080 | 3 | 48595076 | splice region variant | T/C | snv | 1 | |||
| rs1560219171 | 1.000 | 0.080 | 3 | 48576286 | missense variant | C/T | snv | 1 | |||
| rs374718902 | 1.000 | 0.080 | 3 | 48579241 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
| rs730880285 | 1.000 | 0.080 | 3 | 48580881 | splice donor variant | C/G | snv | 1 | |||
| rs730880286 | 1.000 | 0.080 | 3 | 48586378 | frameshift variant | G/- | delins | 1 | |||
| rs755669902 | 1.000 | 0.080 | 3 | 48574549 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs760891216 | 1.000 | 0.080 | 3 | 48568819 | missense variant | C/T | snv | 2.1E-05 | 7.0E-06 | 1 | |
| rs766931219 | 1.000 | 0.080 | 3 | 48575445 | missense variant | C/G | snv | 4.2E-06 | 1 | ||
| rs767182886 | 1.000 | 0.080 | 3 | 48578320 | splice donor variant | C/T | snv | 1 | |||
| rs767539005 | 1.000 | 0.080 | 3 | 48574262 | splice region variant | C/T | snv | 5.6E-05 | 1 | ||
| rs768128088 | 1.000 | 0.080 | 3 | 48573864 | frameshift variant | -/G | delins | 5.6E-05 | 1 | ||
| rs770304825 | 1.000 | 0.080 | 3 | 48580047 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
| rs775288140 | 1.000 | 0.080 | 3 | 48593101 | splice donor variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
| rs121912856 | 0.732 | 0.120 | 3 | 48593538 | missense variant | T/C | snv | 3.2E-05 | 9.1E-05 | 13 | |
| rs144023803 | 0.776 | 0.120 | 3 | 48590721 | stop gained | G/A | snv | 3.6E-05 | 2.1E-05 | 9 | |
| rs762162799 | 0.776 | 0.120 | 3 | 48575437 | missense variant | C/G;T | snv | 8.6E-06; 4.3E-06; 3.0E-05 | 8 | ||
| rs886058642 | 0.776 | 0.120 | 3 | 48590817 | splice acceptor variant | C/T | snv | 8 | |||
| rs1203706188 | 0.790 | 0.120 | 3 | 48593554 | stop gained | G/A;T | snv | 7.0E-06 | 7 | ||
| rs200972872 | 0.790 | 0.120 | 3 | 48576249 | splice region variant | C/T | snv | 8.8E-05 | 9.8E-05 | 7 | |
| rs201728948 | 0.790 | 0.120 | 3 | 48570639 | splice region variant | C/T | snv | 3.0E-05 | 5.6E-05 | 7 | |
| rs368007918 | 0.790 | 0.120 | 3 | 48591527 | stop gained | G/A | snv | 8.0E-06 | 7 | ||
| rs761234904 | 0.790 | 0.120 | 3 | 48584754 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 7 | |
| rs121912839 | 0.882 | 0.120 | 3 | 48572712 | missense variant | C/T | snv | 3 |