| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1556962271 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 2 | |||
| rs80338800 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 21 | |||
| rs58034145 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 10 | |||
| rs1557396600 | 0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv | 2 | |||
| rs781565158 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 22 | |
| rs1057518925 | 1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv | 4 | |||
| rs121908110 | 0.882 | 0.160 | 19 | 46756837 | missense variant | A/G | snv | 1.2E-04 | 2.1E-05 | 4 | |
| rs746438011 | 0.882 | 0.120 | 6 | 152430672 | missense variant | A/G;T | snv | 1.2E-05 | 4 | ||
| rs1553264624 | 1.000 | 0.120 | 1 | 156130724 | inframe deletion | AGCGCACGCTGGAGG/- | del | 1 | |||
| rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 | |
| rs1553521119 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 5 | |||
| rs755660222 | 1.000 | 0.120 | 14 | 77301228 | frameshift variant | C/- | delins | 1.2E-05 | 1 | ||
| rs142336618 | 0.827 | 0.120 | 3 | 49723648 | missense variant | C/G | snv | 4.5E-06; 7.0E-04 | 5.3E-04 | 5 | |
| rs770905160 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 5 | ||
| rs121908458 | 0.882 | 0.120 | 5 | 137870830 | missense variant | C/G;T | snv | 3.6E-05 | 4 | ||
| rs780302064 | 1.000 | 0.120 | 1 | 156137212 | missense variant | C/G;T | snv | 9.5E-06 | 1 | ||
| rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 17 | |
| rs121908457 | 0.882 | 0.120 | 5 | 137870815 | missense variant | C/T | snv | 13 | |||
| rs58932704 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 8 | |||
| rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
| rs116840805 | 0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv | 6 | |||
| rs1553846331 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 4 | |||
| rs756015202 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 4 | ||
| rs28933693 | 0.882 | 0.200 | 17 | 50167653 | missense variant | C/T | snv | 4.6E-04 | 4.5E-04 | 3 | |
| rs368970223 | 0.882 | 0.160 | 11 | 22255403 | stop gained | C/T | snv | 1.6E-05 | 4.2E-05 | 3 |