Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs779315943 | 0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del | 5 | |||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs63750953 | 0.790 | 0.400 | 11 | 5227097 | 5 prime UTR variant | TT/- | delins | 7.0E-06 | 10 | ||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs863224501 | 0.925 | 0.160 | 1 | 45331519 | frameshift variant | TCACGGACGGG/- | delins | 2.1E-05 | 4 | ||
rs886039925 | 1.000 | 17 | 43094481 | frameshift variant | TC/- | delins | 3 | ||||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 48 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs2282679 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 38 | ||
rs78378222 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 37 | ||
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs11556218 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 27 | |
rs495828 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 24 | ||
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 | |
rs12212067 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 20 | ||
rs35866072 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 17 | |
rs2149356 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 14 | ||
rs2243115 | 0.776 | 0.320 | 3 | 159988493 | intron variant | T/G | snv | 0.10 | 12 | ||
rs2602141 | 0.790 | 0.120 | 15 | 43432448 | missense variant | T/G | snv | 0.36 | 0.47 | 9 | |
rs2708861 | 0.851 | 0.120 | 7 | 47977120 | intron variant | T/G | snv | 0.46 | 6 |