| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057518834 | X | 32849737 | frameshift variant | C/- | delins | 9 | |||||
| rs1057518905 | 1 | 155140104 | missense variant | A/T | snv | 3 | |||||
| rs1555420508 | 15 | 42387891 | splice region variant | G/A | snv | 3 | |||||
| rs564856283 | 12 | 101642495 | missense variant | G/A;C | snv | 3.2E-05 | 3 | ||||
| rs104894294 | 1.000 | 11 | 47447853 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 2 | ||
| rs1057518773 | 19 | 38505868 | stop gained | G/A | snv | 1 | |||||
| rs1057518851 | 2 | 178571565 | stop gained | C/T | snv | 1 | |||||
| rs1057518855 | 11 | 22270443 | splice donor variant | -/T | delins | 1 | |||||
| rs1057518866 | X | 32343174 | stop gained | A/C | snv | 1 | |||||
| rs1198364572 | 2 | 178671132 | frameshift variant | -/T | delins | 1 | |||||
| rs122458142 | 1.000 | X | 136207827 | missense variant | C/T | snv | 1 | ||||
| rs122458143 | 1.000 | X | 136207855 | missense variant | G/T | snv | 1 | ||||
| rs137854430 | 1.000 | 16 | 66513795 | missense variant | A/T | snv | 1 | ||||
| rs139552940 | 21 | 46131981 | missense variant | G/A | snv | 5.9E-05 | 4.2E-05 | 1 | |||
| rs149278319 | 1.000 | 7 | 157367416 | missense variant | C/A;G;T | snv | 4.0E-06; 1.4E-03 | 1 | |||
| rs199474699 | MT | 15990 | non coding transcript exon variant | C/T | snv | 1 | |||||
| rs199476140 | MT | 4365 | non coding transcript exon variant | -/A | delins | 1 | |||||
| rs370634440 | 19 | 38463499 | missense variant | G/A;T | snv | 1.7E-04; 8.0E-06 | 1 | ||||
| rs387906587 | 1.000 | 7 | 128835550 | missense variant | G/A | snv | 1 | ||||
| rs387907046 | 1.000 | 7 | 157367414 | missense variant | T/C | snv | 1 | ||||
| rs387907047 | 1.000 | 7 | 157367424 | missense variant | C/G | snv | 1 | ||||
| rs730882052 | 1.000 | 1 | 160195976 | missense variant | A/G | snv | 1 | ||||
| rs746721983 | 2 | 178706629 | stop gained | G/A | snv | 2.8E-05 | 2.1E-05 | 1 | |||
| rs774521989 | 21 | 46132125 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 1 | |||
| rs797045477 | 21 | 45990771 | splice acceptor variant | A/G | snv | 1 |