Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs202234172 | 2 | 178689897 | splice acceptor variant | C/T | snv | 3.4E-04 | 4.7E-04 | 1 | |||
| rs200797552 | 2 | 178578078 | stop gained | C/A;T | snv | 3.3E-04 | 1 | ||||
| rs727505352 | 2 | 178578835 | stop gained | G/A;T | snv | 1.5E-04 | 1 | ||||
| rs6716782 | 2 | 178706956 | splice acceptor variant | T/G | snv | 1.3E-04 | 5.9E-04 | 1 | |||
| rs587782987 | 2 | 178611274 | splice region variant | G/A | snv | 1.1E-04; 4.1E-06 | 1.0E-04 | 1 | |||
| rs748369265 | 2 | 178601788 | splice acceptor variant | C/T | snv | 9.3E-05 | 1.4E-05 | 1 | |||
| rs779996703 | 2 | 178567141 | stop gained | G/A;T | snv | 8.9E-05 | 1 | ||||
| rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
| rs768345594 | 2 | 178585291 | stop gained | G/A;T | snv | 2.0E-05; 6.9E-05 | 1 | ||||
| rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
| rs777602537 | 2 | 178576614 | stop gained | G/A;T | snv | 5.6E-05 | 1 | ||||
| rs397517587 | 2 | 178618768 | stop gained | G/A;T | snv | 4.1E-05 | 1 | ||||
| rs373040154 | 0.925 | 0.160 | 2 | 178617388 | stop gained | G/A;T | snv | 3.2E-05 | 3 | ||
| rs869025546 | 2 | 178555038 | stop gained | C/T | snv | 2.8E-05 | 1 | ||||
| rs751039219 | 2 | 178532605 | stop gained | G/A;T | snv | 2.0E-05; 4.0E-06 | 1 | ||||
| rs727504851 | 0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 | 3 | |
| rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
| rs752856716 | 2 | 178632349 | frameshift variant | -/A | delins | 1.3E-05 | 1 | ||||
| rs780512337 | 2 | 178565638 | stop gained | C/A;T | snv | 1.2E-05 | 1 | ||||
| rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
| rs772121356 | 2 | 178557730 | stop gained | G/A;T | snv | 1.2E-05 | 1 | ||||
| rs557312035 | 0.925 | 0.160 | 2 | 178564811 | stop gained | G/A;C;T | snv | 8.1E-06 | 3 | ||
| rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
| rs869312081 | 2 | 178552997 | frameshift variant | ATTA/- | delins | 8.1E-06 | 1 | ||||
| rs727504589 | 2 | 178620714 | splice donor variant | C/A;T | snv | 8.1E-06; 4.0E-06 | 1 |