| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1383795440 | 1.000 | 0.040 | 22 | 31754865 | 5 prime UTR variant | G/C | snv | 7.0E-06 | 1 | ||
| rs1555897392 | 1.000 | 0.040 | 22 | 31838822 | protein altering variant | -/AGA | ins | 1 | |||
| rs187334123 | 1.000 | 0.040 | 22 | 31797646 | missense variant | G/A;T | snv | 2.2E-03; 1.6E-05 | 1 | ||
| rs1554263366 | 1.000 | 0.040 | 6 | 145686284 | missense variant | T/C | snv | 1 | |||
| rs1554098235 | 1.000 | 0.040 | 5 | 162104026 | missense variant | G/A | snv | 1 | |||
| rs750459631 | 1.000 | 0.040 | 5 | 162101232 | splice region variant | T/G | snv | 3.6E-05 | 4.9E-05 | 1 | |
| rs1554770659 | 1.000 | 0.040 | 9 | 137163819 | missense variant | T/C | snv | 1 | |||
| rs1238779318 | 1.000 | 0.040 | 16 | 9938274 | missense variant | C/G;T | snv | 1 | |||
| rs1555494676 | 1.000 | 0.040 | 16 | 9840657 | inframe deletion | AAG/- | delins | 1 | |||
| rs587780353 | 1.000 | 0.040 | 16 | 9938419 | missense variant | A/T | snv | 4.4E-05 | 4.2E-05 | 1 | |
| rs138450474 | 1.000 | 0.040 | 19 | 35039140 | missense variant | G/A;C | snv | 2.0E-05 | 1 | ||
| rs150586939 | 1.000 | 0.040 | 18 | 47156119 | splice region variant | A/G | snv | 4.1E-03 | 1 | ||
| rs1381851622 | 1.000 | 0.040 | 8 | 132174283 | missense variant | C/T | snv | 1.9E-05 | 1 | ||
| rs150821246 | 1.000 | 0.040 | 8 | 132129618 | missense variant | C/T | snv | 3.7E-04 | 3.1E-04 | 1 | |
| rs1554626549 | 1.000 | 0.040 | 8 | 132170427 | missense variant | G/A | snv | 1 | |||
| rs200124755 | 1.000 | 0.040 | 7 | 103498074 | splice region variant | T/G | snv | 5.2E-04 | 2.9E-04 | 1 | |
| rs751409835 | 1.000 | 0.040 | 7 | 103486204 | stop gained | G/A;C | snv | 1.2E-05 | 1 | ||
| rs1439688451 | 1.000 | 0.040 | 16 | 9798433 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs138282349 | 1.000 | 0.040 | 9 | 135792094 | missense variant | G/A | snv | 1.0E-03 | 1.2E-03 | 1 | |
| rs191333060 | 1.000 | 0.040 | X | 100296405 | missense variant | G/A;C | snv | 1.3E-03 | 1 | ||
| rs1555790846 | 1.000 | 0.040 | 20 | 8790220 | missense variant | C/T | snv | 1 | |||
| rs202170644 | 1.000 | 0.040 | 3 | 64147176 | missense variant | C/G | snv | 4.7E-04 | 6.3E-04 | 1 | |
| rs145873257 | 1.000 | 0.040 | 16 | 7709117 | missense variant | G/A;T | snv | 1.8E-03 | 1 | ||
| rs372761949 | 1.000 | 0.040 | 16 | 7595618 | missense variant | G/A | snv | 2.5E-05 | 1.4E-05 | 1 | |
| rs974157467 | 1.000 | 0.040 | 16 | 7676817 | inframe insertion | GCTGCC/-;GCTGCCGCTGCC | delins | 1 |