Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 1 | |||
rs1057520036 | 0.925 | 0.080 | 5 | 177093180 | missense variant | A/G | snv | 1 | |||
rs1057519727 | 15 | 28260829 | missense variant | A/G | snv | 1 | |||||
rs1555444543 | 15 | 28260816 | inframe deletion | GTCCAGTCCTGGCAA/- | del | 1 | |||||
rs752908306 | 15 | 28272372 | missense variant | G/A;C | snv | 8.0E-06 | 1 | ||||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 1 | |||
rs1057519737 | 17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins | 1 | |||||
rs1555458822 | 16 | 23614062 | frameshift variant | T/- | delins | 1 | |||||
rs1555461693 | 16 | 23635903 | stop gained | C/A | snv | 1 | |||||
rs121913282 | 0.882 | 0.040 | 3 | 179221072 | missense variant | A/C | snv | 1 | |||
rs121913285 | 3 | 179218286 | missense variant | C/G | snv | 1 | |||||
rs121913288 | 1.000 | 0.200 | 3 | 179234219 | missense variant | A/G | snv | 1 | |||
rs121913292 | 1.000 | 0.080 | 10 | 87933148 | frameshift variant | G/- | del | 1 | |||
rs1554897879 | 10 | 87931085 | stop gained | C/A | snv | 1 | |||||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs1555526250 | 17 | 7675191 | frameshift variant | -/GGTCT | delins | 1 | |||||
rs587782620 | 17 | 7675185 | missense variant | C/A;T | snv | 1 | |||||
rs1057517590 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 2 | ||||
rs1060505051 | 1.000 | 17 | 43091883 | frameshift variant | AAGTT/- | delins | 2 | ||||
rs1555581104 | 1.000 | 17 | 43071235 | frameshift variant | CC/- | delins | 2 | ||||
rs1555599208 | 1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del | 2 | ||||
rs397508940 | 1.000 | 17 | 43104958 | splice acceptor variant | T/C;G | snv | 2 | ||||
rs397508983 | 1.000 | 17 | 43092959 | stop gained | G/A;C | snv | 4.0E-06 | 2 | |||
rs397509160 | 1.000 | 17 | 43082474 | stop gained | G/A;T | snv | 2 | ||||
rs80357167 | 1.000 | 17 | 43094066 | stop gained | C/A;T | snv | 2 |