| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1429181351 | 0.925 | 0.160 | 12 | 101764957 | frameshift variant | TA/- | del | 4.0E-06 | 4 | ||
| rs1304422857 | 1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv | 3 | ||||
| rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 16 | ||
| rs1555248020 | 1.000 | 12 | 116009052 | stop gained | G/C | snv | 3 | ||||
| rs782297546 | 0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins | 5 | |||
| rs1553479405 | 1.000 | 2 | 120989603 | frameshift variant | C/- | del | 3 | ||||
| rs1554200990 | 1.000 | 6 | 121446960 | missense variant | G/C | snv | 4 | ||||
| rs80338796 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
| rs121434407 | 0.882 | 0.120 | 9 | 128536414 | missense variant | G/A | snv | 2.7E-04 | 9.8E-05 | 5 | |
| rs777218310 | 0.925 | 10 | 133369907 | frameshift variant | TA/- | delins | 1.6E-05 | 1.3E-04 | 4 | ||
| rs1556019107 | 1.000 | X | 134415106 | stop gained | C/T | snv | 3 | ||||
| rs1554728529 | 1.000 | 9 | 136508989 | frameshift variant | A/- | del | 3 | ||||
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs869025340 | 0.925 | 0.160 | 7 | 140777032 | missense variant | A/C;G;T | snv | 5 | |||
| rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
| rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
| rs1313319892 | 1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 | 3 | |||
| rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
| rs760048191 | 1.000 | 4 | 165341795 | missense variant | A/C;G | snv | 1.2E-05 | 3 | |||
| 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 | ||||
| rs1554109707 | 1.000 | 5 | 180613051 | missense variant | C/G;T | snv | 3 | ||||
| rs1555934843 | 1.000 | X | 19357651 | splice acceptor variant | G/A | snv | 3 | ||||
| rs1555314736 | 1.000 | 14 | 21402335 | splice donor variant | C/T | snv | 3 | ||||
| rs387907306 | 0.925 | 0.160 | 1 | 2228866 | missense variant | G/A;T | snv | 4 |