| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs876657635 | 1.000 | 0.080 | 1 | 115702996 | splice acceptor variant | C/A | snv | 1 | |||
| rs139228801 | 1.000 | 0.080 | 1 | 115705208 | missense variant | G/A;T | snv | 3.2E-05 | 1 | ||
| rs121434549 | 0.925 | 0.080 | 1 | 115705212 | missense variant | C/G;T | snv | 8.0E-06 | 2 | ||
| rs151115064 | 1.000 | 0.080 | 1 | 115725543 | missense variant | G/A | snv | 5.3E-05 | 7.9E-05 | 1 | |
| rs397516643 | 1.000 | 0.080 | 1 | 115732927 | frameshift variant | TGA/GT | delins | 1 | |||
| rs146664754 | 1.000 | 0.080 | 1 | 115732940 | missense variant | G/C | snv | 7.2E-04 | 5.4E-04 | 1 | |
| rs763955301 | 1.000 | 0.080 | 1 | 115732961 | frameshift variant | A/- | delins | 7.0E-06 | 1 | ||
| rs886039816 | 0.925 | 0.080 | 1 | 115732968 | missense variant | T/C | snv | 2 | |||
| rs121434550 | 0.925 | 0.080 | 1 | 115738256 | missense variant | A/T | snv | 2 | |||
| rs1060502164 | 1.000 | 0.080 | 1 | 115744914 | splice acceptor variant | T/C | snv | 1 | |||
| rs749547712 | 0.882 | 0.080 | 1 | 115768444 | missense variant | C/T | snv | 1.2E-05 | 3 | ||
| rs397507556 | 1.000 | 0.080 | 1 | 115768445 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 | 1 | ||
| rs397507555 | 1.000 | 0.080 | 1 | 115768480 | frameshift variant | T/- | del | 1 | |||
| rs747836980 | 1.000 | 0.080 | 6 | 123255098 | stop gained | A/C | snv | 2.9E-05 | 2.1E-05 | 1 | |
| rs781420323 | 1.000 | 0.080 | 6 | 123255108 | frameshift variant | TT/- | delins | 2.2E-05 | 1.4E-05 | 1 | |
| rs750469686 | 1.000 | 0.080 | 6 | 123255870 | frameshift variant | TCTT/- | delins | 2.6E-04 | 1 | ||
| rs1381728472 | 1.000 | 0.080 | 6 | 123265318 | frameshift variant | T/- | delins | 7.0E-06 | 1 | ||
| rs1562267979 | 1.000 | 0.080 | 6 | 123337664 | stop gained | T/A | snv | 1 | |||
| rs202219343 | 1.000 | 0.080 | 6 | 123366174 | stop gained | G/A;C | snv | 1.3E-04; 5.2E-05 | 1 | ||
| rs535908547 | 1.000 | 0.080 | 6 | 123438062 | splice donor variant | C/A;T | snv | 1 | |||
| rs1060502114 | 1.000 | 0.080 | 6 | 123503894 | frameshift variant | C/- | del | 1 | |||
| rs397515458 | 0.925 | 0.080 | 6 | 123503899 | stop gained | G/A | snv | 3.1E-05 | 5.6E-05 | 3 | |
| rs1554251609 | 1.000 | 0.080 | 6 | 123512339 | frameshift variant | -/C | delins | 1 | |||
| rs1085307100 | 0.925 | 0.080 | 6 | 123512344 | frameshift variant | -/T | delins | 2 | |||
| rs1562358749 | 1.000 | 0.080 | 6 | 123515647 | splice donor variant | GGCATGAAATGGGAGCCAGTAGGCTGGGAGCAAGGTGAGAGGAAGGTTTTCACAAAGTATCTTTATGTGTTGAGCAATTAGAACTTATTATCTATTCTACATAAATAAATAACAATTAGAAATTAAAGCAATCTAATAGATAATCAAAATATGCAAGTTATAATAATGAGATCTACTTTCTTACCTATCAAACTGACAAGTATTTCTGATATAATATCCTCACTGCTGGCTAAGGCAGTCTCAAAACTGCCAGAGGAAAAACTGACGCAACATTTCTGGAAAGTTACCACTTTCCAGTTCAACAGTTCTTAACAGTCTGAAGTATTTTATTTCTCTCAATCCAGAAATTCCTTTTTTCAGATTCTATTCTGAGAAAATAATCCTAATCTAATTTGTAAAACTGCGTGGTCATCTAAAATCTGAATGTAAAGAGTAGGAAGTCAATGGGAAAGGACTCAGTGTGTTAAACAGTAATAAAAGTAACTTCATACCTTTCTTTTCAGGTTTTTCTTTTTCTCTTACTTT/- | delins | 1 |