Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs771663107 | 0.882 | 0.160 | 5 | 13865675 | stop gained | G/A | snv | 7.0E-06 | 4 | ||
rs267607227 | 0.925 | 0.160 | 16 | 84154748 | missense variant | T/C;G | snv | 3 | |||
rs387907021 | 0.925 | 0.160 | 14 | 73689432 | missense variant | A/G | snv | 3 | |||
rs387907152 | 0.925 | 0.160 | 19 | 55165427 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
rs397515340 | 0.925 | 0.160 | 6 | 43670918 | inframe insertion | GAA/-;GAAGAA | delins | 4.2E-05 | 3 | ||
rs397515414 | 0.882 | 0.160 | 16 | 71137272 | stop gained | T/A | snv | 3 | |||
rs587777498 | 0.925 | 0.160 | 5 | 55233272 | frameshift variant | CAGGG/-;CAGGGCAGGG | delins | 3 | |||
rs587777499 | 0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins | 3 | |||
rs587777779 | 0.882 | 0.160 | 19 | 11426182 | stop gained | C/A;T | snv | 3 | |||
rs863223325 | 0.925 | 0.160 | 12 | 48918751 | frameshift variant | AT/- | delins | 3 | |||
rs869320683 | 0.925 | 0.160 | 6 | 116623002 | splice region variant | AAGT/- | delins | 2.7E-04 | 3 | ||
rs387907151 | 0.925 | 0.160 | 19 | 55165904 | missense variant | A/G | snv | 2 | |||
rs397515339 | 0.925 | 0.160 | 16 | 84170172 | frameshift variant | -/C | delins | 2 | |||
rs397515363 | 1.000 | 0.160 | 9 | 34459054 | splice donor variant | -/T | delins | 2 | |||
rs397515413 | 0.925 | 0.160 | 16 | 70988133 | missense variant | C/A | snv | 2 | |||
rs587776910 | 0.925 | 0.160 | 17 | 44902466 | frameshift variant | -/G | delins | 2 | |||
rs587776997 | 0.925 | 0.160 | 2 | 26454783 | stop gained | A/T | snv | 2 | |||
rs587777047 | 0.925 | 0.160 | 10 | 27862453 | missense variant | A/C | snv | 2 | |||
rs587777058 | 0.925 | 0.160 | 21 | 42485807 | splice region variant | G/T | snv | 2 | |||
rs587777500 | 0.925 | 0.160 | 5 | 55231502 | frameshift variant | G/- | delins | 2 | |||
rs587777501 | 0.925 | 0.160 | 5 | 55231467 | stop gained | G/A | snv | 2 | |||
rs797045150 | 0.925 | 0.160 | 5 | 55231712 | missense variant | T/C | snv | 2 | |||
rs1554082275 | 1.000 | 0.160 | 5 | 13864463 | frameshift variant | C/- | delins | 1 | |||
rs397515358 | 1.000 | 0.160 | 17 | 74286974 | splice region variant | T/G | snv | 1 | |||
rs606231164 | 1.000 | 0.160 | 9 | 34489343 | frameshift variant | -/AATA | ins | 1 |