| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113001196 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 5 | |||
| rs121918490 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 5 | |||
| rs886039908 | 0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins | 5 | |||
| rs766413410 | 0.925 | 0.080 | 7 | 141615468 | splice region variant | C/A;G;T | snv | 1.2E-05; 2.8E-05; 2.8E-05 | 4 | ||
| rs778127154 | 1.000 | 0.120 | 6 | 24515259 | frameshift variant | T/- | del | 5.6E-05 | 4 | ||
| rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
| rs587777618 | 0.925 | 12 | 4299977 | missense variant | A/G | snv | 4 | ||||
| rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
| rs1555950665 | 1.000 | X | 41334255 | start lost | G/C | snv | 4 | ||||
| rs869025411 | 0.925 | 0.160 | 15 | 48432911 | missense variant | A/G | snv | 4 | |||
| rs1555179320 | 0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv | 4 | |||
| rs28940579 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 4 | ||
| rs786205208 | 0.925 | X | 74742675 | stop gained | G/A | snv | 4 | ||||
| rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
| rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
| rs777096695 | 1.000 | 0.080 | 7 | 141611288 | splice donor variant | G/A;T | snv | 4.1E-06 | 3 | ||
| rs121918608 | 1.000 | 0.080 | 20 | 34292375 | missense variant | T/C | snv | 8.0E-05 | 9.1E-05 | 3 | |
| rs368820286 | 1.000 | 5 | 126549924 | splice region variant | C/T | snv | 2.0E-05 | 1.4E-05 | 3 | ||
| rs1557100594 | 0.925 | 0.080 | X | 153905887 | inframe deletion | TAC/- | delins | 3 | |||
| rs1555202806 | 1.000 | 0.120 | 12 | 76348313 | frameshift variant | AACGCCGC/- | delins | 3 | |||
| rs762904815 | 1.000 | 3 | 9744394 | frameshift variant | C/-;CC;CCC | delins | 3 | ||||
| rs1554944527 | 1.000 | 11 | 687999 | stop gained | G/T | snv | 3 | ||||
| rs1555891562 | 1.000 | 20 | 58909707 | missense variant | G/A | snv | 3 | ||||
| rs730882175 | 1.000 | 0.120 | 1 | 210804143 | missense variant | C/T | snv | 3 | |||
| rs781978013 | 1.000 | 11 | 118472681 | stop gained | G/A;T | snv | 4.0E-06 | 3 |