| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397508762 | 1.000 | 0.120 | 7 | 117504256 | stop gained | G/A;T | snv | 1 | |||
| rs397508796 | 1.000 | 0.120 | 7 | 117504278 | stop gained | G/A;C;T | snv | 4.0E-06 | 1 | ||
| rs397508815 | 1.000 | 0.120 | 7 | 117504287 | stop gained | C/T | snv | 1 | |||
| rs149353983 | 1.000 | 0.120 | 7 | 117504291 | missense variant | G/A;T | snv | 5.6E-05; 3.2E-05 | 1 | ||
| rs397508141 | 1.000 | 0.120 | 7 | 117504297 | inframe deletion | TTGTCAGACATATACCAA/- | delins | 1 | |||
| rs193922498 | 1.000 | 0.120 | 7 | 117504313 | stop gained | C/G | snv | 1 | |||
| rs397508168 | 1.000 | 0.120 | 7 | 117504314 | stop gained | C/T | snv | 1 | |||
| rs143456784 | 1.000 | 0.120 | 7 | 117504324 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 1 | |
| rs1800074 | 1.000 | 0.120 | 7 | 117504330 | missense variant | A/G;T | snv | 4.0E-06 | 1 | ||
| rs151020603 | 1.000 | 0.120 | 7 | 117504336 | missense variant | C/A;T | snv | 3.2E-05 | 1 | ||
| rs1562882755 | 1.000 | 0.120 | 7 | 117504342 | frameshift variant | ATCT/- | delins | 1 | |||
| rs397508217 | 1.000 | 0.120 | 7 | 117504347 | missense variant | T/C | snv | 1 | |||
| rs1554375870 | 1.000 | 0.120 | 7 | 117504364 | splice donor variant | -/T | delins | 1 | |||
| rs397508243 | 1.000 | 0.120 | 7 | 117504364 | splice donor variant | G/A;C;T | snv | 1 | |||
| rs121908800 | 1.000 | 0.120 | 7 | 117504365 | splice donor variant | T/A;C;G | snv | 1 | |||
| rs397508244 | 1.000 | 0.120 | 7 | 117504366 | splice region variant | -/T | delins | 4.0E-06 | 1 | ||
| rs200337193 | 0.925 | 0.160 | 7 | 117509031 | splice region variant | C/A;T | snv | 2.4E-05 | 2 | ||
| rs397508249 | 1.000 | 0.120 | 7 | 117509033 | splice acceptor variant | G/A | snv | 1 | |||
| rs397508256 | 0.925 | 0.160 | 7 | 117509035 | stop gained | G/A;T | snv | 1.2E-05 | 2 | ||
| rs397508272 | 1.000 | 0.120 | 7 | 117509038 | missense variant | T/C;G | snv | 1 | |||
| rs397508279 | 1.000 | 0.120 | 7 | 117509039 | stop gained | G/A | snv | 1 | |||
| rs121909025 | 1.000 | 0.120 | 7 | 117509040 | stop gained | G/A | snv | 1 | |||
| rs397508295 | 1.000 | 0.120 | 7 | 117509041 | frameshift variant | TAGA/- | delins | 1 | |||
| rs397508294 | 1.000 | 0.120 | 7 | 117509043 | frameshift variant | -/A | delins | 1 | |||
| rs77284892 | 0.851 | 0.160 | 7 | 117509047 | stop gained | G/A;T | snv | 2.4E-05 | 4 |