Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
| rs2230009 | 0.827 | 0.240 | 8 | 31064419 | missense variant | G/A | snv | 5.8E-02 | 7.8E-02 | 5 | |
| rs3087425 | 0.882 | 0.160 | 8 | 31120294 | missense variant | C/T | snv | 2.8E-03 | 8.7E-04 | 3 | |
| rs17847577 | 0.925 | 0.120 | 8 | 31081132 | stop gained | C/T | snv | 1.7E-04 | 3.2E-04 | 2 | |
| rs748860208 | 1.000 | 0.080 | 8 | 31141490 | frameshift variant | AACA/- | delins | 5.6E-05 | 1 | ||
| rs747319628 | 1.000 | 0.080 | 8 | 31132498 | stop gained | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
| rs1383589957 | 1.000 | 0.080 | 8 | 31111628 | frameshift variant | AC/- | delins | 4.0E-06 | 2.8E-05 | 1 | |
| rs758988621 | 1.000 | 0.080 | 8 | 31064288 | splice acceptor variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs780555196 | 1.000 | 0.080 | 8 | 31088891 | frameshift variant | C/- | del | 2.8E-05 | 2.1E-05 | 1 | |
| rs121908446 | 1.000 | 0.080 | 8 | 31157461 | stop gained | C/T | snv | 2.0E-05 | 2.1E-05 | 1 | |
| rs776785728 | 1.000 | 0.080 | 8 | 31065058 | frameshift variant | AA/- | delins | 6.4E-05 | 2.1E-05 | 1 | |
| rs878854131 | 1.000 | 0.080 | 8 | 31081190 | frameshift variant | A/- | delins | 2.1E-05 | 1 | ||
| rs878854133 | 1.000 | 0.080 | 8 | 31058455 | frameshift variant | A/-;AA | delins | 1.4E-05 | 1 | ||
| rs1244318419 | 1.000 | 0.080 | 8 | 31076199 | frameshift variant | AACA/- | delins | 1.2E-05 | 1.4E-05 | 1 | |
| rs759972548 | 1.000 | 0.080 | 8 | 31141495 | frameshift variant | AG/- | delins | 1.4E-05 | 1 | ||
| rs370324188 | 1.000 | 0.080 | 8 | 31068276 | stop gained | C/T | snv | 8.2E-06 | 7.0E-06 | 1 | |
| rs797045118 | 1.000 | 0.080 | 8 | 31065045 | frameshift variant | GA/- | delins | 7.0E-06 | 1 | ||
| rs143916053 | 1.000 | 0.080 | 8 | 31111720 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
| rs1303126572 | 1.000 | 0.080 | 8 | 31157509 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
| rs281865160 | 1.000 | 0.080 | 8 | 31150355 | frameshift variant | A/- | delins | 7.0E-06 | 1 | ||
| rs1198210848 | 1.000 | 0.080 | 8 | 31058535 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs188554751 | 0.851 | 0.200 | 8 | 31120403 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
| rs113993961 | 1.000 | 0.080 | 8 | 31141680 | splice acceptor variant | G/C | snv | 4.0E-06 | 1 | ||
| rs121908447 | 1.000 | 0.080 | 8 | 31147397 | stop gained | C/T | snv | 1 | |||
| rs121908448 | 1.000 | 0.080 | 8 | 31090843 | missense variant | A/T | snv | 1 |