| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386834197 | 1.000 | 0.280 | 8 | 93809056 | frameshift variant | -/A | delins | 1 | |||
| rs386834192 | 0.925 | 0.320 | 8 | 93803685 | splice donor variant | -/T | delins | 1.4E-05 | 2 | ||
| rs386834198 | 1.000 | 0.280 | 8 | 93809811 | frameshift variant | -/TA | delins | 1 | |||
| rs386834190 | 1.000 | 0.280 | 8 | 93755776 | splice acceptor variant | A/- | del | 9.6E-05 | 1 | ||
| rs386834203 | 1.000 | 0.280 | 8 | 93765574 | frameshift variant | A/- | del | 1 | |||
| rs386834204 | 1.000 | 0.280 | 8 | 93765642 | frameshift variant | A/- | delins | 1 | |||
| rs137853106 | 1.000 | 0.280 | 8 | 93782456 | missense variant | A/C | snv | 1 | |||
| rs386834188 | 1.000 | 0.280 | 8 | 93755075 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs386834194 | 1.000 | 0.280 | 8 | 93808928 | missense variant | A/G | snv | 1.4E-05 | 1 | ||
| rs386834207 | 1.000 | 0.280 | 8 | 93780872 | splice acceptor variant | A/G | snv | 1 | |||
| rs137853107 | 0.882 | 0.360 | 8 | 93791282 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
| rs137853108 | 0.851 | 0.320 | 8 | 93765617 | stop gained | A/T | snv | 1.8E-04 | 2.6E-04 | 4 | |
| rs386834196 | 1.000 | 0.280 | 8 | 93809057 | stop gained | A/T | snv | 1 | |||
| rs386834200 | 1.000 | 0.280 | 8 | 93758552 | frameshift variant | AC/- | delins | 1 | |||
| rs386834202 | 0.851 | 0.320 | 8 | 93765574 | frameshift variant | AG/- | del | 4.0E-06; 1.9E-04 | 5.6E-05 | 4 | |
| rs386834186 | 1.000 | 0.280 | 8 | 93791280 | frameshift variant | AT/- | delins | 1 | |||
| rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
| rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
| rs386834206 | 1.000 | 0.280 | 8 | 93780612 | missense variant | C/T | snv | 1 | |||
| rs786205126 | 1.000 | 0.280 | 8 | 93809876 | inframe deletion | CTT/- | delins | 1 | |||
| rs386834181 | 1.000 | 0.280 | 8 | 93781744 | splice donor variant | G/- | delins | 1 | |||
| rs386834182 | 0.925 | 0.360 | 8 | 93786253 | missense variant | G/A | snv | 6.0E-05 | 4.2E-05 | 2 | |
| rs386834205 | 0.925 | 0.320 | 8 | 93772612 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs386834187 | 1.000 | 0.280 | 8 | 93791320 | splice donor variant | G/A | snv | 1 | |||
| rs386834183 | 1.000 | 0.280 | 8 | 93786256 | missense variant | G/A;T | snv | 8.0E-06 | 1 |