| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121908425 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 14 | ||
| rs771487311 | 0.882 | 0.120 | 11 | 103255530 | missense variant | T/C | snv | 1.9E-05 | 7.0E-05 | 5 | |
| rs755381180 | 0.882 | 0.160 | 4 | 5745303 | inframe deletion | AAG/- | delins | 1.6E-05 | 2.8E-05 | 3 | |
| rs137852924 | 0.882 | 0.160 | 4 | 5640789 | stop gained | G/A | snv | 4.8E-05 | 3.5E-05 | 3 | |
| rs769864196 | 0.882 | 0.120 | 4 | 5631795 | stop gained | G/A | snv | 3.2E-05 | 4.9E-05 | 3 | |
| rs750338419 | 0.882 | 0.080 | 2 | 27459399 | stop gained | -/T | delins | 1.2E-05 | 3 | ||
| rs138004478 | 0.882 | 0.120 | 3 | 160356069 | missense variant | C/G;T | snv | 6.8E-05 | 3 | ||
| rs199947197 | 0.925 | 0.160 | 4 | 169424668 | stop gained | G/C | snv | 1.2E-04 | 8.4E-05 | 3 | |
| rs794726665 | 0.925 | 0.120 | 4 | 5793722 | splice region variant | G/A;T | snv | 6.5E-06; 6.5E-06 | 2 | ||
| rs1261505725 | 0.925 | 0.080 | 11 | 103245376 | splice donor variant | T/G | snv | 5.0E-06 | 2.1E-05 | 2 | |
| rs748523193 | 0.925 | 0.120 | 4 | 5729369 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs548706733 | 1.000 | 0.080 | 19 | 49812987 | splice donor variant | AGGCCCCACCTGCTGACGGGCGG/- | del | 6.7E-06 | 9.8E-05 | 1 | |
| rs1157065841 | 1.000 | 0.080 | 4 | 169400242 | missense variant | T/C;G | snv | 4.9E-06 | 7.0E-06 | 1 | |
| rs1362848762 | 1.000 | 0.080 | 4 | 169507758 | frameshift variant | C/- | del | 1 | |||
| rs1554053289 | 1.000 | 0.080 | 4 | 169508311 | frameshift variant | CC/- | del | 1 | |||
| rs1554075284 | 1.000 | 0.080 | 4 | 169587563 | frameshift variant | GTTT/- | delins | 1 | |||
| rs1554075506 | 1.000 | 0.080 | 4 | 169588686 | missense variant | G/A | snv | 1 | |||
| rs387906890 | 1.000 | 0.080 | 4 | 169590743 | stop gained | G/A;C | snv | 3.2E-05 | 1 | ||
| rs431905508 | 1.000 | 0.080 | 4 | 169589478 | missense variant | C/T | snv | 1 | |||
| rs483352906 | 1.000 | 0.080 | 4 | 169577081 | splice acceptor variant | T/C | snv | 1 | |||
| rs752878896 | 1.000 | 0.080 | 4 | 169433613 | frameshift variant | TGTT/- | delins | 8.0E-06 | 2.1E-05 | 1 | |
| rs758677637 | 1.000 | 0.080 | 4 | 169537856 | stop gained | G/A | snv | 8.1E-06 | 1 | ||
| rs773496891 | 1.000 | 0.080 | 4 | 169426235 | splice acceptor variant | C/T | snv | 1 | |||
| rs775849720 | 1.000 | 0.080 | 4 | 169507052 | frameshift variant | T/- | delins | 7.0E-06 | 1 | ||
| rs794727032 | 1.000 | 0.080 | 4 | 169577080 | splice acceptor variant | C/A | snv | 4.0E-06 | 7.0E-06 | 1 |