| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
| rs1556423728 | 1.000 | 0.120 | 21 | 45982682 | frameshift variant | C/- | delins | 1 | |||
| rs1556425467 | 1.000 | 0.120 | 21 | 45989102 | missense variant | G/C;T | snv | 1 | |||
| rs1556425468 | 1.000 | 0.120 | 21 | 45989103 | missense variant | G/T | snv | 1 | |||
| rs1556425474 | 1.000 | 0.120 | 21 | 45989120 | inframe deletion | AGCCGGAGA/- | delins | 1 | |||
| rs1556425566 | 1.000 | 0.120 | 21 | 45989753 | missense variant | G/A | snv | 1 | |||
| rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
| rs1556425687 | 1.000 | 0.120 | 21 | 45990284 | splice donor variant | GGTGAGCG/- | del | 1 | |||
| rs1556425717 | 1.000 | 0.120 | 21 | 45990376 | splice acceptor variant | A/G | snv | 1 | |||
| rs1556425835 | 1.000 | 0.120 | 21 | 45990771 | splice acceptor variant | A/- | del | 1 | |||
| rs1559225974 | 1.000 | 0.120 | 2 | 237359238 | inframe deletion | CCT/- | delins | 1 | |||
| rs1559225993 | 1.000 | 0.120 | 2 | 237359252 | splice acceptor variant | T/C | snv | 1 | |||
| rs1559234260 | 1.000 | 0.120 | 2 | 237365697 | splice donor variant | C/A | snv | 1 | |||
| rs1559261557 | 1.000 | 0.120 | 2 | 237381113 | stop gained | G/A | 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 | |||
| rs1569517717 | 1.000 | 0.120 | 21 | 45984470 | splice donor variant | G/A | snv | 1 | |||
| rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 | |||
| rs1569518481 | 1.000 | 0.120 | 21 | 45994231 | splice donor variant | T/G | snv | 1 | |||
| rs1569519030 | 1.000 | 0.120 | 21 | 46001252 | splice acceptor variant | G/T | snv | 1 | |||
| rs200478135 | 1.000 | 0.120 | 2 | 237363363 | missense variant | C/T | snv | 4.8E-05 | 3.5E-05 | 1 |