| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553948516 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 3 | |||
| rs755903502 | 0.882 | 0.120 | 4 | 76161738 | stop gained | T/A;C | snv | 4.0E-05; 4.0E-06 | 3 | ||
| rs200053119 | 0.925 | 0.040 | 4 | 76181016 | stop gained | G/A | snv | 8.0E-06 | 2.8E-05 | 2 | |
| rs121909118 | 1.000 | 0.040 | 4 | 76174276 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs121909119 | 1.000 | 0.040 | 4 | 76179596 | stop gained | C/T | snv | 1 | |||
| rs727502772 | 1.000 | 0.040 | 4 | 76166249 | splice donor variant | C/A | snv | 1 | |||
| rs727502773 | 1.000 | 0.040 | 4 | 76179693 | frameshift variant | -/CT | delins | 8.0E-05 | 1.5E-04 | 1 | |
| rs727502781 | 1.000 | 0.040 | 4 | 76168478 | splice acceptor variant | T/G | snv | 1 | |||
| rs727502782 | 1.000 | 0.040 | 4 | 76163365 | frameshift variant | C/- | del | 1 | |||
| rs727502783 | 1.000 | 0.040 | 4 | 76168400 | splice donor variant | -/A | delins | 8.0E-06 | 1 | ||
| rs758857853 | 1.000 | 0.040 | 4 | 76169893 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
| rs774271963 | 1.000 | 0.040 | 4 | 76176432 | splice region variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs886041073 | 1.000 | 0.040 | 4 | 76181081 | frameshift variant | T/- | delins | 1 | |||
| rs886041074 | 1.000 | 0.040 | 4 | 76179707 | splice acceptor variant | T/G | snv | 1 | |||
| rs886041075 | 1.000 | 0.040 | 4 | 76176471 | stop gained | GGTAA/- | delins | 4.0E-06 | 1 | ||
| rs886041076 | 1.000 | 0.040 | 4 | 76176436 | splice donor variant | C/G;T | snv | 1 | |||
| rs886041077 | 1.000 | 0.040 | 4 | 76169963 | frameshift variant | -/A | delins | 1.2E-05 | 1 | ||
| rs886041078 | 1.000 | 0.040 | 4 | 76163353 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs886041079 | 1.000 | 0.040 | 4 | 76163233 | frameshift variant | TGGATC/GGTGCATGCAT | delins | 1 | |||
| rs886041072 | 1.000 | 0.040 | 4 | 76213433 | frameshift variant | G/- | del | 1 |