Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs754284524 | 1.000 | 0.040 | 5 | 122074125 | stop gained | -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC | ins | 4.0E-06 | 2 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 41 | |||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs1057519855 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 11 | |||
rs386675647 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 10 | |||
rs397517108 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 9 | |||
rs35502531 | 0.827 | 0.160 | 3 | 37047639 | missense variant | AA/GC | mnv | 8 | |||
rs1057519853 | 0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv | 6 | |||
rs878853419 | 1.000 | 0.120 | 5 | 112835073 | stop gained | CC/AT | mnv | 2 | |||
rs67904882 | 4 | 69480846 | missense variant | GA/TT | mnv | 1 | |||||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs11571658 | 0.851 | 0.240 | 13 | 32340630 | frameshift variant | TT/- | del | 2.8E-05 | 6 | ||
rs16405 | 0.882 | 0.120 | 10 | 101553963 | 3 prime UTR variant | AACAGTGGA/- | del | 0.31 | 4 | ||
rs868257011 | 0.925 | 0.080 | 10 | 87961042 | frameshift variant | TACTT/- | del | 4 | |||
rs777875898 | 1.000 | 0.120 | 9 | 111594264 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 2 | |
rs886041332 | 10 | 87960962 | frameshift variant | A/- | del | 2 | |||||
rs1057519840 | 5 | 68295257 | inframe deletion | GACAAACGTATGAACAGC/- | del | 1 | |||||
rs1057519843 | 5 | 112839522 | frameshift variant | AAGATTGGAAC/- | del | 1 |