Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs145465528 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 7 | |
| rs202247792 | 0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 | 5 | ||
| rs398123383 | 1.000 | 0.120 | 6 | 129460287 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 4 | |
| rs121913572 | 0.882 | 0.120 | 6 | 129481422 | stop gained | C/G;T | snv | 5.2E-05 | 3.5E-05 | 3 | |
| rs1554269966 | 0.882 | 0.120 | 6 | 129315952 | splice donor variant | T/C | snv | 3 | |||
| rs1554301637 | 0.925 | 0.120 | 6 | 129464289 | splice acceptor variant | TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- | delins | 3 | |||
| rs1209130981 | 1.000 | 0.120 | 6 | 129149008 | frameshift variant | AT/- | del | 2.8E-05 | 2 | ||
| rs121913574 | 0.925 | 0.120 | 6 | 129190317 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs121913575 | 0.925 | 0.120 | 6 | 129353285 | stop gained | C/T | snv | 8.0E-06 | 2 | ||
| rs121913576 | 0.925 | 0.120 | 6 | 129464444 | stop gained | C/A;T | snv | 8.0E-06; 2.4E-05 | 2 | ||
| rs1554234163 | 0.925 | 0.120 | 6 | 129177868 | splice donor variant | T/C | snv | 2 | |||
| rs1562449164 | 1.000 | 0.120 | 6 | 129314653 | splice acceptor variant | A/C | snv | 2 | |||
| rs398123373 | 0.925 | 0.120 | 6 | 129316089 | stop gained | C/G;T | snv | 4.0E-06; 6.0E-05 | 2 | ||
| rs749522728 | 0.925 | 0.120 | 6 | 129492484 | splice donor variant | G/A | snv | 8.0E-06 | 2 | ||
| rs758775001 | 0.925 | 0.120 | 6 | 129391535 | stop gained | C/G;T | snv | 2.4E-05 | 2 | ||
| rs762806915 | 0.925 | 0.120 | 6 | 129464371 | stop gained | C/A | snv | 2.8E-05 | 1.4E-05 | 2 | |
| rs1018100729 | 1.000 | 0.120 | 6 | 129050088 | stop gained | C/T | snv | 1 | |||
| rs1055407857 | 1.000 | 0.120 | 6 | 129492078 | splice donor variant | G/A | snv | 1 | |||
| rs1064797040 | 1.000 | 0.120 | 6 | 129427751 | splice acceptor variant | G/A | snv | 1 | |||
| rs1064797327 | 1.000 | 0.120 | 6 | 129149097 | splice donor variant | G/A;T | snv | 1 | |||
| rs1131691660 | 1.000 | 0.120 | 6 | 129353358 | splice donor variant | G/C;T | snv | 4.0E-06 | 1 | ||
| rs117422805 | 1.000 | 0.120 | 6 | 129280072 | missense variant | C/T | snv | 1.9E-03 | 1.7E-03 | 1 | |
| rs1180309541 | 1.000 | 0.120 | 6 | 129316068 | stop gained | C/T | snv | 1 | |||
| rs1211739649 | 1.000 | 0.120 | 6 | 129393064 | frameshift variant | A/-;AAAAA | delins | 1 | |||
| rs121913569 | 1.000 | 0.120 | 6 | 129315638 | stop gained | C/T | snv | 1 |