| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs376289130 | 1.000 | 0.120 | 3 | 183039101 | missense variant | A/C;G | snv | 4.0E-05 | 1.1E-04 | 1 | |
| rs398124350 | 1.000 | 0.120 | 3 | 183045422 | frameshift variant | C/- | delins | 1 | |||
| rs398124352 | 1.000 | 0.120 | 3 | 183039088 | missense variant | C/A;G;T | snv | 3.2E-05; 4.0E-06; 8.0E-06 | 1 | ||
| rs544349961 | 1.000 | 0.120 | 3 | 183041720 | stop gained | G/A | snv | 2.4E-05 | 4.9E-05 | 1 | |
| rs727504002 | 1.000 | 0.120 | 3 | 183037286 | frameshift variant | C/- | del | 1.2E-05 | 2.8E-05 | 1 | |
| rs727504004 | 1.000 | 0.120 | 3 | 183071066 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs746500530 | 1.000 | 0.120 | 3 | 183057321 | missense variant | T/C | snv | 2.5E-05 | 1.4E-05 | 1 | |
| rs748201122 | 1.000 | 0.120 | 3 | 183071310 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
| rs750484977 | 1.000 | 0.120 | 3 | 183045516 | stop gained | G/C | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs754437245 | 1.000 | 0.120 | 3 | 183057342 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
| rs754460336 | 1.000 | 0.120 | 3 | 183092486 | missense variant | G/A | snv | 6.4E-05 | 5.6E-05 | 1 | |
| rs755328329 | 1.000 | 0.120 | 3 | 183041719 | missense variant | T/G | snv | 4.0E-06 | 1 | ||
| rs757362635 | 1.000 | 0.120 | 3 | 183071290 | missense variant | A/G;T | snv | 2.4E-05; 1.2E-05 | 1 | ||
| rs762463137 | 1.000 | 0.120 | 3 | 183041570 | frameshift variant | -/C | delins | 4.0E-05; 8.0E-06 | 2.1E-05 | 1 | |
| rs762463914 | 1.000 | 0.120 | 3 | 183099440 | start lost | T/C | snv | 1.8E-05 | 3.5E-05 | 1 | |
| rs768785753 | 1.000 | 0.120 | 3 | 183039072 | missense variant | C/T | snv | 2.8E-05 | 3.5E-05 | 1 | |
| rs772395858 | 1.000 | 0.120 | 3 | 183071122 | splice acceptor variant | T/C | snv | 8.0E-06 | 1 | ||
| rs773433541 | 1.000 | 0.120 | 3 | 183057358 | missense variant | A/C;G | snv | 8.1E-06 | 1 | ||
| rs776641008 | 1.000 | 0.120 | 3 | 183020102 | splice donor variant | TCATTCTACAGATGTCATGTGATTACCTTTTCA/- | delins | 1 | |||
| rs794727036 | 1.000 | 0.120 | 3 | 183041695 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
| rs796051985 | 1.000 | 0.120 | 3 | 183041640 | frameshift variant | CA/- | delins | 4.0E-06 | 1.4E-05 | 1 | |
| rs886058209 | 1.000 | 0.120 | 3 | 183071119 | splice acceptor variant | CC/- | delins | 4.0E-06 | 1.4E-05 | 1 | |
| rs887877405 | 1.000 | 0.120 | 3 | 183041699 | missense variant | C/T | snv | 1 | |||
| rs905321122 | 1.000 | 0.120 | 3 | 183020177 | stop gained | C/A;G | snv | 4.0E-06 | 1 | ||
| rs920162850 | 1.000 | 0.120 | 3 | 183086719 | stop gained | G/A | snv | 7.0E-06 | 1 |