Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs730881360 | 11 | 108227629 | missense variant | G/A;C | snv | 1 | |||||
rs1553622530 | 2 | 214781220 | stop gained | C/T | snv | 1 | |||||
rs1131692162 | 17 | 43099781 | stop gained | C/A | snv | 1 | |||||
rs1555582520 | 17 | 43076486 | splice donor variant | A/G | snv | 1 | |||||
rs397508979 | 17 | 43092974 | frameshift variant | -/GAAAAGTGAA | ins | 1 | |||||
rs55680408 | 17 | 43095875 | missense variant | T/A;C | snv | 3.6E-05 | 2.8E-05 | 1 | |||
rs886037788 | 17 | 43091461 | frameshift variant | -/TCAA | ins | 1 | |||||
rs886037789 | 17 | 43071159 | frameshift variant | T/- | del | 1 | |||||
rs1555280073 | 13 | 32316454 | start lost | TAAAAATGCCTATTGG/- | delins | 1 | |||||
rs1555284442 | 13 | 32340234 | frameshift variant | G/- | del | 1 | |||||
rs398122710 | 13 | 32371100 | missense variant | G/A | snv | 1 | |||||
rs587782137 | 13 | 32316471 | missense variant | G/A;C | snv | 2.4E-05 | 1 | ||||
rs886037797 | 13 | 32332667 | frameshift variant | AACTAACC/- | delins | 1 | |||||
rs1555114766 | 11 | 108317486 | stop gained | G/A | snv | 1 | |||||
rs555016384 | 6 | 167136139 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs1555913881 | 22 | 28695841 | frameshift variant | T/- | del | 1 | |||||
rs1215280530 | 16 | 67616822 | missense variant | A/G | snv | 1 | |||||
rs201498575 | 7 | 55165359 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs1389945622 | 3 | 36993560 | missense variant | G/A;C | snv | 1 | |||||
rs1131692241 | 17 | 39723966 | inframe deletion | TGAGGGAAAACACAT/- | delins | 1 | |||||
rs1057519714 | 6 | 152094402 | missense variant | T/C | snv | 1 | |||||
rs1057519716 | 6 | 152098782 | missense variant | C/A | snv | 1 | |||||
rs1057519717 | 6 | 152098785 | missense variant | T/G | snv | 1 | |||||
rs1057519727 | 15 | 28260829 | missense variant | A/G | snv | 1 | |||||
rs1555444543 | 15 | 28260816 | inframe deletion | GTCCAGTCCTGGCAA/- | del | 1 |