| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1085307138 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 9 | |||
| rs869312823 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 9 | |||
| rs1057518681 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 7 | |||
| rs1380822792 | 0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins | 7 | |||
| rs724159948 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 7 | ||||
| rs724159953 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 7 | ||||
| rs724159950 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 6 | |||
| rs724159951 | 21 | 37493101 | missense variant | T/C | snv | 6 | |||||
| rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 | |||||
| rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
| rs724159956 | 21 | 37496249 | frameshift variant | -/G | delins | 6 | |||||
| rs1085307132 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 5 | |||
| rs1085307139 | 0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins | 5 | |||
| rs1114167294 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 4 | ||||
| rs1554643142 | 0.925 | 0.120 | 8 | 143818042 | frameshift variant | CCTGCCCTATGTTGCTGGG/- | delins | 4 | |||
| rs1554817910 | 1.000 | 10 | 79216266 | missense variant | A/G | snv | 4 | ||||
| rs397517159 | 0.882 | 0.200 | 2 | 39007168 | missense variant | C/T | snv | 4 | |||
| rs1554641549 | 0.925 | 0.080 | 8 | 143816613 | frameshift variant | TGGCCTTATGA/- | delins | 3 | |||
| rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
| rs1218912272 | 0.925 | 0.160 | 1 | 152314342 | stop gained | T/A | snv | 4.0E-06 | 8 | ||
| rs1345176461 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 40 | ||
| rs780533096 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 44 | ||
| rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 45 | ||
| rs863225422 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 23 | |
| rs559979281 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 23 |