| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs869320683 | 0.925 | 0.160 | 6 | 116623002 | splice region variant | AAGT/- | delins | 2.7E-04 | 3 | ||
| rs138815960 | 0.925 | 0.160 | 3 | 50345533 | splice donor variant | A/C | snv | 2.7E-04 | 2.1E-04 | 3 | |
| rs879253744 | 1.000 | 10 | 27935009 | splice donor variant | C/T | snv | 4.0E-06 | 2 | |||
| rs201133219 | 1.000 | 19 | 48297995 | splice region variant | C/T | snv | 8.0E-05 | 7.0E-05 | 2 | ||
| rs397515392 | 1.000 | 0.120 | 3 | 180661860 | splice donor variant | C/G | snv | 1.6E-04 | 7.0E-05 | 2 | |
| rs587778820 | 1.000 | 0.120 | 3 | 180619334 | frameshift variant | T/- | delins | 2.6E-05 | 1.4E-05 | 2 | |
| rs587778822 | 1.000 | 0.120 | 3 | 180651496 | frameshift variant | T/- | delins | 1.4E-05 | 2 | ||
| rs773801386 | 1.000 | 0.120 | 3 | 180654861 | frameshift variant | GT/- | delins | 4.2E-05 | 2 | ||
| rs370706991 | 1.000 | 0.120 | 17 | 80089763 | splice acceptor variant | G/A;T | snv | 4.0E-06; 3.6E-05 | 2 | ||
| rs387907092 | 1.000 | 0.120 | 17 | 80082020 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
| rs397515393 | 1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 | 2 | |
| rs587778819 | 1.000 | 0.160 | 17 | 80089876 | frameshift variant | -/CTGT;TGT | ins | 3.6E-05 | 2 | ||
| rs754867753 | 1.000 | 0.120 | 17 | 80050085 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 | 2 | |
| rs1554294478 | 1.000 | 0.160 | 7 | 21901225 | stop lost | GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- | delins | 2 | |||
| rs267607225 | 1.000 | 0.120 | 16 | 84159744 | stop gained | C/T | snv | 1.6E-05 | 2 | ||
| rs786205052 | 1.000 | 0.120 | 16 | 84154730 | frameshift variant | -/G | delins | 2 | |||
| rs770403610 | 1.000 | 0.160 | 19 | 55162263 | stop gained | C/T | snv | 2.1E-05 | 2 | ||
| rs397515621 | 1.000 | 15 | 55439557 | stop gained | G/A;C | snv | 1.2E-05 | 2 | |||
| rs397514561 | 1.000 | 7 | 780097 | missense variant | T/C | snv | 2 | ||||
| rs121908854 | 1.000 | 7 | 21748602 | stop gained | C/A;G;T | snv | 1.2E-03; 4.7E-06 | 2 | |||
| rs121908855 | 1.000 | 0.160 | 7 | 21880869 | stop gained | C/G | snv | 6.1E-05 | 2.8E-05 | 2 | |
| rs368260932 | 1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 | 2 | |
| rs373844629 | 1.000 | 0.160 | 7 | 21690844 | stop gained | C/T | snv | 8.1E-06 | 1.4E-05 | 2 | |
| rs775720394 | 1.000 | 0.160 | 7 | 21899355 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 2 | ||
| rs797045085 | 1.000 | 0.160 | 7 | 21749750 | stop gained | C/T | snv | 7.0E-06 | 2 |