Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 | ||
rs483353077 | 1.000 | 13 | 32370470 | frameshift variant | TTT/AAAA;NNNN | delins | 3 | ||||
rs1555599208 | 1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del | 2 | ||||
rs397507643 | 1.000 | 13 | 32337181 | frameshift variant | TTAA/- | delins | 2 | ||||
rs121913469 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 11 | |||
rs886037800 | 1.000 | 13 | 32338395 | frameshift variant | TT/-;TTT | delins | 2 | ||||
rs1131692241 | 17 | 39723966 | inframe deletion | TGAGGGAAAACACAT/- | delins | 1 | |||||
rs80357787 | 0.925 | 0.200 | 17 | 43091008 | frameshift variant | TC/- | delins | 4 | |||
rs886037785 | 1.000 | 17 | 43091708 | frameshift variant | TACCT/- | delins | 2 | ||||
rs1555280073 | 13 | 32316454 | start lost | TAAAAATGCCTATTGG/- | delins | 1 | |||||
rs886037803 | 1.000 | 13 | 32338188 | frameshift variant | TA/- | delins | 2 | ||||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs1057520003 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 20 | |||
rs1273593548 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 19 | ||
rs28904921 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 12 | |
rs1057519045 | 0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv | 6 | |||
rs1057519901 | 0.925 | 0.080 | 10 | 121498525 | missense variant | T/G | snv | 5 | |||
rs17506395 | 0.925 | 0.080 | 3 | 189803530 | intron variant | T/G | snv | 0.19 | 3 | ||
rs1057519717 | 6 | 152098785 | missense variant | T/G | snv | 1 | |||||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 34 | ||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs747342068 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 21 | ||
rs587780073 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 19 | |||
rs753660142 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 19 |