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 | |||
rs1057518636 | 1.000 | 17 | 43047646 | frameshift variant | -/A | ins | 3 | ||||
rs397516979 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins | 2 | |||
rs397508979 | 17 | 43092974 | frameshift variant | -/GAAAAGTGAA | ins | 1 | |||||
rs886037788 | 17 | 43091461 | frameshift variant | -/TCAA | ins | 1 | |||||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 41 | |||
rs121913469 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 11 | |||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs80359550 | 0.807 | 0.280 | 13 | 32340301 | frameshift variant | T/- | del | 1.8E-04 | 8 | ||
rs587776416 | 0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 | 5 | |
rs587782780 | 0.925 | 0.200 | 13 | 32336414 | frameshift variant | GATTA/- | del | 4.0E-06 | 4 | ||
rs80357772 | 0.925 | 0.200 | 17 | 43094549 | frameshift variant | AT/- | del | 4 | |||
rs1057517590 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 2 | ||||
rs121913292 | 1.000 | 0.080 | 10 | 87933148 | frameshift variant | G/- | del | 2 | |||
rs1555282830 | 1.000 | 13 | 32337109 | frameshift variant | C/- | del | 2 | ||||
rs1555599208 | 1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del | 2 | ||||
rs886037784 | 1.000 | 17 | 43099803 | frameshift variant | A/- | del | 2 | ||||
rs886037799 | 1.000 | 13 | 32338503 | frameshift variant | AT/- | del | 2 | ||||
rs886037805 | 1.000 | 13 | 32398266 | frameshift variant | G/- | del | 2 | ||||
rs1555284442 | 13 | 32340234 | frameshift variant | G/- | del | 1 | |||||
rs1555444543 | 15 | 28260816 | inframe deletion | GTCCAGTCCTGGCAA/- | del | 1 | |||||
rs1555913881 | 22 | 28695841 | frameshift variant | T/- | del | 1 | |||||
rs886037789 | 17 | 43071159 | frameshift variant | T/- | del | 1 | |||||
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 |