| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
| rs1569162748 | 0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del | 7 | |||
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs62638634 | 0.925 | 0.080 | X | 38322921 | missense variant | C/A | snv | 4 | |||
| rs138320978 | 0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 | 3 | ||
| rs142371860 | 0.925 | 0.160 | 2 | 26421396 | stop gained | C/A;T | snv | 3.9E-04 | 3 | ||
| rs202094637 | 0.925 | 0.160 | 21 | 32602299 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-05 | 3 | ||
| rs267607227 | 0.925 | 0.160 | 16 | 84154748 | missense variant | T/C;G | snv | 3 | |||
| rs387907021 | 0.925 | 0.160 | 14 | 73689432 | missense variant | A/G | snv | 3 | |||
| rs587777498 | 0.925 | 0.160 | 5 | 55233272 | frameshift variant | CAGGG/-;CAGGGCAGGG | delins | 3 | |||
| rs587777499 | 0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins | 3 | |||
| rs587777502 | 0.925 | 0.160 | 5 | 55233256 | frameshift variant | -/TGGGC | delins | 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 | 3 | ||
| rs863223325 | 0.925 | 0.160 | 12 | 48918751 | frameshift variant | AT/- | delins | 3 | |||
| rs1060501460 | 1.000 | 0.160 | 5 | 13776447 | frameshift variant | A/- | delins | 1.2E-05 | 2 | ||
| rs1060501464 | 1.000 | 0.160 | 5 | 13735167 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs118204041 | 1.000 | 0.120 | 6 | 116617083 | stop gained | C/T | snv | 2.0E-05 | 2 | ||
| rs121908854 | 1.000 | 7 | 21748602 | stop gained | C/A;G;T | snv | 1.2E-03; 4.7E-06 | 2 | |||
| rs1273352530 | 1.000 | 0.160 | 5 | 13830621 | stop gained | G/A | snv | 2 | |||
| rs1349668884 | 1.000 | 0.160 | 19 | 55159416 | frameshift variant | -/T | delins | 2 | |||
| rs141945265 | 1.000 | 8 | 132632819 | stop gained | G/A;C | snv | 1.2E-05; 1.5E-03 | 2 | |||
| rs1554294478 | 1.000 | 0.160 | 7 | 21901225 | stop lost | GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- | delins | 2 | |||
| rs1569163423 | 1.000 | 0.160 | X | 13767272 | frameshift variant | -/T | delins | 2 | |||
| rs1569164733 | 1.000 | 0.160 | X | 13768093 | stop gained | G/T | snv | 2 | |||
| rs1569164829 | 1.000 | 0.160 | X | 13768111 | stop gained | G/T | snv | 2 | |||
| rs267607225 | 1.000 | 0.120 | 16 | 84159744 | stop gained | C/T | snv | 1.6E-05 | 2 |