| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121909235 | 0.851 | 0.240 | 10 | 87957919 | missense variant | G/A | snv | 8 | |||
| rs774207364 | 1.000 | 0.120 | 12 | 861184 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 5 | |||
| rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
| rs1430937516 | 1.000 | 0.120 | 7 | 76510939 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs1555457919 | 1.000 | 0.120 | 15 | 74202231 | frameshift variant | -/G;GG | delins | 1 | |||
| rs606231126 | 1.000 | 0.120 | 15 | 74202216 | frameshift variant | AGT/GG | delins | 1.6E-05 | 1 | ||
| rs267607096 | 1.000 | 0.120 | 15 | 74202199 | stop gained | C/T | snv | 5.6E-06 | 1 | ||
| rs1555457882 | 1.000 | 0.120 | 15 | 74202151 | splice region variant | TT/- | del | 1 | |||
| rs606231125 | 1.000 | 0.120 | 15 | 74197785 | frameshift variant | G/- | delins | 1 | |||
| rs772134481 | 1.000 | 0.120 | 15 | 74197360 | missense variant | G/A;T | snv | 3.3E-05; 6.5E-06; 6.5E-06 | 2.8E-05 | 1 | |
| rs118203961 | 1.000 | 0.120 | 15 | 74196145 | missense variant | G/A | snv | 1 | |||
| rs606231127 | 1.000 | 0.120 | 15 | 74195371 | frameshift variant | -/C | delins | 4.0E-06; 8.0E-06; 4.0E-06 | 1 | ||
| rs118203958 | 1.000 | 0.120 | 15 | 74190889 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs151341424 | 0.925 | 0.120 | 15 | 74190856 | missense variant | CC/TT | mnv | 3 | |||
| rs118203962 | 1.000 | 0.120 | 15 | 74189244 | missense variant | T/G | snv | 5.4E-04 | 4.1E-04 | 1 | |
| rs869025269 | 1.000 | 0.120 | 15 | 74182448 | missense variant | T/C | snv | 8.3E-06 | 1 | ||
| rs397518484 | 1.000 | 0.120 | 15 | 74181459 | splice acceptor variant | C/T | snv | 7.0E-06 | 1 | ||
| rs1567177198 | 1.000 | 0.120 | 15 | 74181302 | frameshift variant | -/A | delins | 1 | |||
| rs397514638 | 1.000 | 0.120 | 15 | 74181301 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs144691445 | 1.000 | 0.120 | 15 | 74180171 | missense variant | C/A;G;T | snv | 1.6E-05 | 1 | ||
| rs118203960 | 1.000 | 0.120 | 15 | 74180153 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 1 | |
| rs118203959 | 1.000 | 0.120 | 15 | 74180121 | missense variant | G/A | snv | 1.6E-05 | 1 | ||
| rs397514639 | 1.000 | 0.120 | 15 | 74180120 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
| rs67437265 | 0.925 | 0.160 | 4 | 71022523 | missense variant | C/T | snv | 1.8E-02 | 2.3E-02 | 2 |