| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs200382776 | 1.000 | 0.160 | 21 | 42477286 | splice region variant | C/T | snv | 2.6E-04 | 6.6E-05 | 2 | |
| rs200901816 | 1.000 | 0.160 | 5 | 13701289 | stop gained | G/A | snv | 6.0E-05 | 6.3E-05 | 2 | |
| rs769458738 | 5 | 13753489 | missense variant | C/T | snv | 2.0E-05 | 6.3E-05 | 1 | |||
| rs202236144 | 7 | 21725823 | stop gained | C/G;T | snv | 3.3E-05 | 6.3E-05 | 1 | |||
| rs775051461 | 1.000 | 5 | 55231790 | missense variant | A/G | snv | 9.8E-05 | 6.3E-05 | 1 | ||
| rs745495583 | 16 | 84170124 | frameshift variant | GGAGATGGAGAGCCAGAGGGGAC/- | delins | 2.4E-05 | 5.6E-05 | 1 | |||
| rs753614861 | 1.000 | 0.160 | 5 | 13830026 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 | 2 | |
| rs200669099 | 1.000 | 0.160 | 9 | 34514468 | stop gained | G/A | snv | 3.6E-05 | 5.6E-05 | 2 | |
| rs574586008 | 5 | 13917142 | splice donor variant | C/A;T | snv | 1.2E-05 | 5.6E-05 | 1 | |||
| rs766707325 | 6 | 38815616 | frameshift variant | GACCCAT/- | delins | 4.9E-05 | 1 | ||||
| rs752925056 | 5 | 13841051 | frameshift variant | -/T | delins | 6.0E-05 | 4.9E-05 | 1 | |||
| rs146087064 | 5 | 13844910 | stop gained | G/A;T | snv | 2.8E-05 | 4.9E-05 | 1 | |||
| rs750528020 | 6 | 116628058 | stop gained | C/T | snv | 2.8E-05 | 4.9E-05 | 1 | |||
| rs769691641 | 5 | 13769601 | frameshift variant | A/- | delins | 8.0E-06 | 4.9E-05 | 1 | |||
| rs72657316 | 7 | 21619178 | stop gained | C/T | snv | 2.8E-05 | 4.2E-05 | 1 | |||
| rs773801386 | 1.000 | 0.120 | 3 | 180654861 | frameshift variant | GT/- | delins | 4.2E-05 | 2 | ||
| rs902750903 | 6 | 116629610 | frameshift variant | A/- | delins | 4.2E-05 | 1 | ||||
| rs397515340 | 0.925 | 0.160 | 6 | 43670918 | inframe insertion | GAA/-;GAAGAA | delins | 4.2E-05 | 3 | ||
| rs571919972 | 1.000 | 0.160 | 5 | 13758881 | stop gained | G/A | snv | 5.2E-05 | 4.2E-05 | 2 | |
| rs1193586811 | 5 | 13792038 | stop gained | G/A | snv | 1.2E-05 | 3.5E-05 | 1 | |||
| rs1304504006 | 5 | 13753490 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 1 | |||
| rs200913791 | 0.925 | 0.160 | 3 | 50342473 | missense variant | A/G | snv | 2.0E-04 | 3.5E-05 | 3 | |
| rs745465871 | 19 | 55165930 | frameshift variant | -/A | delins | 1.2E-05 | 3.5E-05 | 1 | |||
| rs769929539 | 6 | 38938012 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 | 1 | |||
| rs774393276 | 5 | 55232389 | frameshift variant | -/C | delins | 2.4E-05 | 2.8E-05 | 1 |