Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553938364 | 1.000 | 0.200 | 4 | 83485026 | frameshift variant | AGCACAAAGCCCGAGAGCACCG/- | delins | 1 | |||
rs1057519364 | 1.000 | 0.200 | 11 | 108253839 | stop gained | G/T | snv | 1 | |||
rs1555124587 | 1.000 | 0.200 | 11 | 108331957 | stop gained | G/T | snv | 1 | |||
rs376824528 | 1.000 | 0.200 | 11 | 108332789 | missense variant | A/G | snv | 1.6E-05 | 4.2E-05 | 1 | |
rs977584514 | 1.000 | 0.200 | 2 | 214728813 | missense variant | A/G | snv | 1 | |||
rs1135401840 | 1.000 | 0.200 | 17 | 43094447 | frameshift variant | -/T | delins | 1 | |||
rs1135401843 | 1.000 | 0.200 | 17 | 43094209 | frameshift variant | -/T | delins | 1 | |||
rs1135401847 | 1.000 | 0.200 | 17 | 43093805 | frameshift variant | -/C | ins | 1 | |||
rs1135401853 | 1.000 | 0.200 | 17 | 43092843 | frameshift variant | -/T | ins | 1 | |||
rs1135401858 | 1.000 | 0.200 | 17 | 43092466 | frameshift variant | -/T | delins | 1 | |||
rs1135401860 | 1.000 | 0.200 | 17 | 43092116 | frameshift variant | -/C | ins | 1 | |||
rs1135401869 | 1.000 | 0.200 | 17 | 43091660 | frameshift variant | -/G | ins | 1 | |||
rs1135401873 | 1.000 | 0.200 | 17 | 43082477 | frameshift variant | -/C | delins | 1 | |||
rs1135401878 | 1.000 | 0.200 | 17 | 43074330 | frameshift variant | -/T | ins | 1 | |||
rs1135401879 | 1.000 | 0.200 | 17 | 43070979 | frameshift variant | -/TT | ins | 1 | |||
rs1135401880 | 1.000 | 0.200 | 17 | 43070925 | splice donor variant | CA/- | delins | 1 | |||
rs1135401883 | 1.000 | 0.200 | 17 | 43063878 | frameshift variant | -/G | ins | 1 | |||
rs1135401887 | 1.000 | 0.200 | 17 | 43047679 | frameshift variant | -/TC | delins | 1 | |||
rs1135401933 | 1.000 | 0.200 | 17 | 43071091 | frameshift variant | -/C | delins | 1 | |||
rs1135401936 | 1.000 | 0.200 | 17 | 43057128 | frameshift variant | -/G | ins | 1 | |||
rs1555575073 | 1.000 | 0.200 | 17 | 43049114 | splice donor variant | TACT/- | delins | 1 | |||
rs1555575142 | 1.000 | 0.200 | 17 | 43049161 | frameshift variant | GC/T | delins | 1 | |||
rs1555575231 | 1.000 | 0.200 | 17 | 43049216 | intron variant | AAATCACTGCAGTAA/- | delins | 1 | |||
rs1555575677 | 1.000 | 0.200 | 17 | 43051063 | inframe deletion | CTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA/- | del | 1 | |||
rs1555576959 | 1.000 | 0.200 | 17 | 43057117 | frameshift variant | CT/- | delins | 1 |