Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913289 | 1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins | 4 | |||
rs397507828 | 1.000 | 13 | 32340440 | stop gained | G/T | snv | 4 | ||||
rs1057518636 | 1.000 | 17 | 43047646 | frameshift variant | -/A | ins | 3 | ||||
rs1057518637 | 1.000 | 13 | 32336621 | stop gained | C/G;T | snv | 3 | ||||
rs1057519724 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 3 | |||
rs1257401983 | 1.000 | 0.120 | 17 | 61744445 | stop gained | G/C | snv | 3 | |||
rs483353077 | 1.000 | 13 | 32370470 | frameshift variant | TTT/AAAA;NNNN | delins | 3 | ||||
rs80359706 | 1.000 | 13 | 32363522 | frameshift variant | -/T | delins | 3 | ||||
rs876659036 | 1.000 | 0.080 | 16 | 23622997 | stop gained | C/A;G | snv | 8.0E-06; 8.0E-06 | 3 | ||
rs1057517590 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 2 | ||||
rs1057518635 | 1.000 | 13 | 32340367 | frameshift variant | ATAG/- | delins | 2 | ||||
rs1057518638 | 1.000 | 13 | 32339317 | stop gained | T/A | snv | 2 | ||||
rs1057519715 | 1.000 | 0.080 | 6 | 152098779 | missense variant | T/A | snv | 2 | |||
rs1057519787 | 1.000 | 0.040 | 17 | 39711952 | missense variant | G/A;C | snv | 2 | |||
rs1057520015 | 1.000 | 0.080 | 18 | 20955181 | missense variant | G/A | snv | 2 | |||
rs1060505051 | 1.000 | 17 | 43091883 | frameshift variant | AAGTT/- | delins | 2 | ||||
rs1131692035 | 1.000 | 13 | 32332335 | stop gained | C/G | snv | 2 | ||||
rs121913288 | 1.000 | 0.200 | 3 | 179234219 | missense variant | A/G | snv | 2 | |||
rs121913292 | 1.000 | 0.080 | 10 | 87933148 | frameshift variant | G/- | del | 2 | |||
rs1555281594 | 1.000 | 13 | 32332276 | frameshift variant | -/G | delins | 2 | ||||
rs1555282830 | 1.000 | 13 | 32337109 | frameshift variant | C/- | del | 2 | ||||
rs1555283169 | 1.000 | 13 | 32337677 | stop gained | A/T | snv | 2 | ||||
rs1555460315 | 1.000 | 0.080 | 16 | 23629673 | frameshift variant | GT/- | delins | 2 | |||
rs1555581104 | 1.000 | 17 | 43071235 | frameshift variant | CC/- | delins | 2 | ||||
rs1555599208 | 1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del | 2 |