| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs1057519321 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 7 | |||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs199472823 | 0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv | 5 | |||
| rs11466512 | 1.000 | 0.160 | 3 | 30671634 | splice region variant | T/A;C | snv | 0.30 | 1 | ||
| rs2276767 | 1.000 | 0.160 | 3 | 30691329 | intron variant | C/A | snv | 0.23 | 1 | ||
| rs876658120 | 1.000 | 0.160 | 3 | 30691437 | inframe deletion | ACGTTGACTGAG/- | delins | 1 | |||
| rs727504421 | 0.882 | 0.160 | 3 | 30691465 | missense variant | G/A;T | snv | 3 | |||
| rs397515866 | 1.000 | 0.160 | 15 | 48411000 | frameshift variant | AA/- | delins | 1 | |||
| rs397515865 | 1.000 | 0.160 | 15 | 48411006 | missense variant | T/G | snv | 1 | |||
| rs1060501033 | 0.925 | 0.160 | 15 | 48411045 | frameshift variant | A/- | del | 2 | |||
| rs794728323 | 1.000 | 0.160 | 15 | 48411062 | frameshift variant | TT/-;T;TTT | delins | 1 | |||
| rs1555393508 | 1.000 | 0.160 | 15 | 48411070 | stop gained | C/A;T | snv | 1 | |||
| rs1555393510 | 1.000 | 0.160 | 15 | 48411076 | stop gained | G/A | snv | 1 | |||
| rs1064794130 | 1.000 | 0.160 | 15 | 48411077 | frameshift variant | AAGTT/- | delins | 1 | |||
| rs587782948 | 1.000 | 0.160 | 15 | 48411085 | stop gained | C/A | snv | 1 | |||
| rs886038795 | 0.925 | 0.160 | 15 | 48411118 | stop gained | G/A | snv | 2 | |||
| rs397515864 | 1.000 | 0.160 | 15 | 48411123 | stop gained | G/C | snv | 1 | |||
| rs1555393525 | 1.000 | 0.160 | 15 | 48411127 | frameshift variant | A/- | del | 1 | |||
| rs727504454 | 1.000 | 0.160 | 15 | 48411131 | inframe deletion | TCC/- | del | 1 | |||
| rs1555393532 | 0.925 | 0.160 | 15 | 48411159 | missense variant | T/C;G | snv | 2 | |||
| rs1555393538 | 1.000 | 0.160 | 15 | 48411189 | frameshift variant | -/T | delins | 1 | |||
| rs193922246 | 1.000 | 0.160 | 15 | 48411189 | inframe deletion | TTTTAA/- | delins | 1 | |||
| rs869025417 | 1.000 | 0.160 | 15 | 48411267 | missense variant | A/G | snv | 1 |