Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs797044523 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 9 | ||||
rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
rs759190203 | 1.000 | 0.040 | 6 | 10876442 | splice donor variant | -/A | delins | 4.0E-06 | 2 | ||
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs1566823361 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 18 | |||
rs1559193213 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 11 | |||
rs78300695 | 0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 | 8 | ||
rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 | |||||
rs724159956 | 21 | 37496249 | frameshift variant | -/G | delins | 6 | |||||
rs778003597 | 5 | 126559300 | frameshift variant | -/G | delins | 8.0E-06 | 7.0E-06 | 1 | |||
rs387906309 | 0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 | 10 | |
rs1555850151 | 1.000 | 20 | 63406659 | frameshift variant | -/GCCCA | delins | 2 | ||||
rs879253753 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 19 | |||
rs878853283 | 1.000 | 9 | 109149675 | frameshift variant | -/T | delins | 4 | ||||
rs1444879414 | 5 | 126595148 | frameshift variant | -/T | delins | 6.0E-06 | 1 | ||||
rs775835429 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 4 | |
rs1568925507 | 1.000 | 20 | 63438654 | inframe insertion | -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC | delins | 5 | ||||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
rs797044521 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 8 | ||||
rs1554902217 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 7 | |||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs869312670 | 0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del | 3 | |||
rs113994198 | 0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins | 4 |