Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs255012 | 1.000 | 0.200 | 7 | 41189487 | regulatory region variant | T/A;C | snv | 2 | |||
rs267608383 | 1.000 | 0.200 | X | 154030643 | frameshift variant | TCGGGCTC/- | delins | 5.8E-06 | 2 | ||
rs267608402 | 1.000 | 0.200 | X | 154030650 | missense variant | G/A | snv | 2 | |||
rs3758653 | 1.000 | 0.200 | 11 | 636399 | upstream gene variant | T/C | snv | 0.20 | 2 | ||
rs61753016 | 1.000 | 0.200 | X | 154030614 | missense variant | G/A | snv | 6.8E-05 | 3.9E-05 | 2 | |
rs6511901 | 1.000 | 0.200 | 19 | 13916839 | intron variant | C/T | snv | 0.39 | 2 | ||
rs6530893 | 1.000 | 0.200 | 8 | 15671068 | intron variant | T/C | snv | 0.14 | 2 | ||
rs6994908 | 1.000 | 0.200 | 8 | 15674943 | intron variant | T/C | snv | 0.32 | 2 | ||
rs745986648 | 1.000 | 0.200 | 3 | 20174431 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs749457448 | 1.000 | 0.200 | X | 70452622 | start lost | A/G | snv | 2 | |||
rs1555455456 | 1.000 | 0.200 | 15 | 43753826 | missense variant | G/A | snv | 1 | |||
rs1555910048 | 1.000 | 0.200 | 22 | 50720739 | frameshift variant | -/CCGTGGGCAGCCCCGG | delins | 1 | |||
rs1562928193 | 1.000 | 0.200 | 7 | 105102045 | frameshift variant | -/TA | delins | 1 | |||
rs1569161831 | 1.000 | 0.200 | X | 21426661 | splice donor variant | G/A | snv | 1 | |||
rs765556214 | 1.000 | 0.200 | 11 | 105933765 | missense variant | G/A;C | snv | 1.6E-05 | 4.9E-05 | 1 | |
rs878853141 | 1.000 | 0.200 | X | 53199068 | missense variant | C/G | snv | 1 | |||
rs878853142 | 1.000 | 0.200 | 17 | 17795278 | frameshift variant | GGCAT/- | delins | 1 | |||
rs878853144 | 1.000 | 0.200 | X | 53239213 | stop gained | G/A | snv | 1 | |||
rs878853145 | 1.000 | 0.200 | X | 48903017 | missense variant | C/T | snv | 1 | |||
rs878853146 | 1.000 | 0.200 | X | 29917576 | frameshift variant | TTGGGAAAGT/- | delins | 1 | |||
rs878853148 | 1.000 | 0.200 | X | 54002150 | splice region variant | C/G | snv | 1 | |||
rs878853151 | 1.000 | 0.200 | X | 53211601 | frameshift variant | -/A | delins | 1 | |||
rs878853152 | 1.000 | 0.200 | X | 120547154 | frameshift variant | TG/- | delins | 1 |