| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060500575 | 1.000 | 0.040 | 2 | 178576081 | stop gained | G/A | snv | 1 | |||
| rs1060500586 | 0.925 | 0.160 | 2 | 178557795 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
| rs1060500589 | 0.925 | 0.160 | 2 | 178533817 | frameshift variant | ATT/TATA | delins | 2 | |||
| rs1060500593 | 1.000 | 0.040 | 2 | 178565028 | frameshift variant | -/ATTT | delins | 1 | |||
| rs1060503941 | 0.925 | 0.160 | 2 | 178563782 | stop gained | A/C;G;T | snv | 4.0E-06 | 2 | ||
| rs1064792914 | 1.000 | 0.040 | 2 | 178592434 | stop gained | -/AAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAA | delins | 1 | |||
| rs1064792915 | 1.000 | 0.040 | 2 | 178608280 | frameshift variant | AAGCCATCTACATTGGCTTTCAAGGCAT/- | delins | 1 | |||
| rs1064792916 | 0.925 | 0.160 | 2 | 178559829 | frameshift variant | GCCTTGACAATCAA/T | delins | 2 | |||
| rs1064793419 | 1.000 | 0.040 | 2 | 178542739 | frameshift variant | -/T | delins | 1 | |||
| rs1064793560 | 0.925 | 0.160 | 2 | 178536160 | stop gained | C/T | snv | 1.4E-05 | 2 | ||
| rs1064793814 | 2 | 178559769 | stop gained | C/T | snv | 1 | |||||
| rs1064793845 | 1.000 | 0.040 | 2 | 178578006 | frameshift variant | -/A | delins | 1 | |||
| rs1064794266 | 0.925 | 0.160 | 2 | 178607400 | splice donor variant | C/A;T | snv | 2 | |||
| rs1064794472 | 0.925 | 0.160 | 2 | 178553784 | frameshift variant | -/A | ins | 7.0E-06 | 2 | ||
| rs1064795407 | 1.000 | 0.040 | 2 | 178563537 | frameshift variant | -/T | delins | 7.0E-06 | 1 | ||
| rs1064796112 | 0.925 | 0.160 | 2 | 178578632 | frameshift variant | T/- | delins | 2 | |||
| rs1064796230 | 0.925 | 0.160 | 2 | 178601536 | frameshift variant | TT/- | delins | 2 | |||
| rs1114167323 | 1.000 | 0.040 | 2 | 178584515 | frameshift variant | GC/- | del | 1 | |||
| rs1114167324 | 1.000 | 0.040 | 2 | 178590043 | stop gained | G/C | snv | 1 | |||
| rs1114167333 | 1.000 | 0.040 | 2 | 178633449 | frameshift variant | CA/- | delins | 1 | |||
| rs1114167335 | 1.000 | 0.040 | 2 | 178603919 | frameshift variant | A/- | del | 1 | |||
| rs1114167338 | 1.000 | 2 | 178570405 | stop gained | C/A;G;T | snv | 8.1E-06; 8.1E-06 | 1 | |||
| rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
| rs112240298 | 2 | 178538945 | splice donor variant | C/G;T | snv | 1 | |||||
| rs1131691381 | 0.925 | 0.160 | 2 | 178605696 | stop gained | C/A | snv | 4.6E-06 | 2 |