| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 11 | |
| rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 9 | |
| rs6025 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 5 | ||
| rs121908690 | 0.925 | 0.080 | 1 | 46267540 | missense variant | G/A | snv | 1.4E-05 | 1 | ||
| rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 1 | ||
| rs35352891 | 0.827 | 0.200 | 1 | 45331729 | missense variant | G/A | snv | 3.8E-04 | 1.1E-04 | 1 | |
| rs397514606 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 1 | |||
| rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 1 | |
| rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 1 | |||
| rs5744168 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 1 | |
| rs750592289 | 0.925 | 0.160 | 1 | 45332786 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
| rs763110 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 1 | ||
| rs863224502 | 0.882 | 0.160 | 1 | 45331184 | stop gained | T/A | snv | 1.4E-05 | 1 | ||
| rs875989854 | 0.925 | 0.160 | 1 | 75734798 | missense variant | C/G;T | snv | 8.0E-06 | 1 | ||
| rs587779157 | 0.827 | 0.240 | 2 | 47408486 | inframe deletion | GAAGTT/- | delins | 6 | |||
| rs267608059 | 0.882 | 0.240 | 2 | 47801050 | stop gained | G/T | snv | 5 | |||
| rs587780021 | 0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 4 | |
| rs587780024 | 0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins | 3 | |||
| rs587781707 | 1.000 | 0.080 | 2 | 214752472 | stop gained | G/A;C | snv | 1.2E-05 | 3 | ||
| rs796666047 | 0.925 | 0.200 | 2 | 214780669 | stop gained | G/C;T | snv | 8.0E-06 | 3 | ||
| rs879254139 | 0.925 | 0.200 | 2 | 214797118 | splice acceptor variant | C/A;T | snv | 3 | |||
| rs1057517589 | 1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 | 2 | ||
| rs1482641121 | 1.000 | 0.080 | 2 | 214780875 | frameshift variant | GA/- | delins | 4.0E-06 | 2 | ||
| rs1553619349 | 1.000 | 0.080 | 2 | 214767643 | stop gained | G/T | snv | 2 | |||
| rs1553622160 | 1.000 | 0.080 | 2 | 214780643 | frameshift variant | TAGAC/- | delins | 2 |