| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1375040481 | 1.000 | 0.120 | 21 | 46112504 | frameshift variant | ACGAC/- | del | 4.1E-06 | 1 | ||
| rs138948335 | 1.000 | 0.120 | 21 | 46125817 | stop gained | G/A;T | snv | 1.0E-04 | 1.4E-05 | 1 | |
| rs1555873353 | 1.000 | 0.120 | 21 | 46117387 | splice acceptor variant | CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT/- | del | 1 | |||
| rs1555873356 | 1.000 | 0.120 | 21 | 46117398 | splice acceptor variant | A/C;G | snv | 1 | |||
| rs1555873507 | 1.000 | 0.120 | 21 | 46117873 | splice region variant | G/- | delins | 1 | |||
| rs1555873508 | 1.000 | 0.120 | 21 | 46117876 | frameshift variant | C/- | delins | 1 | |||
| rs1555877252 | 1.000 | 0.120 | 21 | 46132064 | stop gained | C/T | snv | 1 | |||
| rs1568928804 | 1.000 | 0.120 | 21 | 46115909 | missense variant | G/A | snv | 1 | |||
| rs1568929639 | 1.000 | 0.120 | 21 | 46116767 | splice acceptor variant | CAG/AA | delins | 1 | |||
| rs267606750 | 1.000 | 0.120 | 21 | 46125509 | missense variant | G/A | snv | 1 | |||
| rs373072443 | 1.000 | 0.120 | 21 | 46131980 | missense variant | C/T | snv | 3.4E-05 | 2.8E-05 | 1 | |
| rs374669775 | 1.000 | 0.120 | 21 | 46121067 | stop gained | C/T | snv | 1.2E-05 | 1 | ||
| rs61735828 | 1.000 | 0.120 | 21 | 46121563 | missense variant | G/A;C | snv | 1.7E-03 | 6.1E-03 | 1 | |
| rs727502827 | 1.000 | 0.120 | 21 | 46116010 | missense variant | G/A;T | snv | 1 | |||
| rs727502828 | 1.000 | 0.120 | 21 | 46116027 | missense variant | G/A;C | snv | 1 | |||
| rs727502832 | 1.000 | 0.120 | 21 | 46116387 | missense variant | G/T | snv | 1 | |||
| rs749974929 | 1.000 | 0.120 | 21 | 46121554 | splice acceptor variant | A/G | snv | 4.0E-06 | 1 | ||
| rs752730608 | 1.000 | 0.120 | 21 | 46119812 | stop gained | A/G;T | snv | 2.8E-05 | 1 | ||
| rs770842374 | 1.000 | 0.120 | 21 | 46111593 | splice donor variant | T/C | snv | 8.1E-06 | 2.1E-05 | 1 | |
| rs794727418 | 1.000 | 0.120 | 21 | 46125913 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
| rs794727715 | 1.000 | 0.120 | 21 | 46114074 | splice donor variant | G/A;T | snv | 1 | |||
| rs794727788 | 1.000 | 0.120 | 21 | 46115882 | missense variant | G/A;T | snv | 1 | |||
| rs794727855 | 1.000 | 0.120 | 21 | 46116028 | missense variant | G/T | snv | 1 | |||
| rs863224861 | 1.000 | 0.120 | 21 | 46125911 | missense variant | G/A | snv | 1 | |||
| rs878854362 | 1.000 | 0.120 | 21 | 46116677 | missense variant | G/A;T | snv | 1 |