Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3758653 | 1.000 | 0.200 | 11 | 636399 | upstream gene variant | T/C | snv | 0.20 | 2 | ||
rs749457448 | 1.000 | 0.200 | X | 70452622 | start lost | A/G | snv | 2 | |||
rs796053290 | 0.925 | 0.280 | X | 135998095 | splice region variant | TTTTA/- | delins | 2 | |||
rs869312674 | 0.925 | 0.200 | 6 | 33446569 | splice region variant | G/A;C | snv | 4.0E-06 | 2 | ||
rs878853148 | 1.000 | 0.200 | X | 54002150 | splice region variant | C/G | snv | 1 | |||
rs724159950 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 6 | |||
rs1569146649 | 1.000 | 0.200 | 22 | 42211545 | frameshift variant | -/T | delins | 2 | |||
rs267608383 | 1.000 | 0.200 | X | 154030643 | frameshift variant | TCGGGCTC/- | delins | 5.8E-06 | 2 | ||
rs398123561 | 0.925 | 0.240 | 18 | 55350391 | frameshift variant | CTTT/- | delins | 2 | |||
rs869025287 | 0.925 | 0.200 | 12 | 115969040 | frameshift variant | GCCAATAT/- | delins | 2 | |||
rs1555910048 | 1.000 | 0.200 | 22 | 50720739 | frameshift variant | -/CCGTGGGCAGCCCCGG | delins | 1 | |||
rs1562928193 | 1.000 | 0.200 | 7 | 105102045 | frameshift variant | -/TA | delins | 1 | |||
rs878853142 | 1.000 | 0.200 | 17 | 17795278 | frameshift variant | GGCAT/- | delins | 1 | |||
rs878853146 | 1.000 | 0.200 | X | 29917576 | frameshift variant | TTGGGAAAGT/- | delins | 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 | |||
rs4846049 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 11 | |||
rs372949028 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 13 | |
rs1569161831 | 1.000 | 0.200 | X | 21426661 | splice donor variant | G/A | snv | 1 | |||
rs199516560 | 0.851 | 0.200 | 7 | 87600772 | 5 prime UTR variant | G/A | snv | 2.1E-05 | 5 | ||
rs587776690 | 0.882 | 0.280 | 3 | 142556439 | synonymous variant | T/C | snv | 4 | |||
rs61749735 | 0.925 | 0.200 | X | 154031162 | synonymous variant | G/A;C | snv | 5.4E-06; 3.8E-05 | 3 | ||
rs10410239 | 1.000 | 0.200 | 19 | 13919876 | synonymous variant | T/C | snv | 0.27 | 0.38 | 2 | |
rs2276382 | 1.000 | 0.200 | 18 | 31598648 | synonymous variant | G/A | snv | 3.4E-03 | 1.1E-03 | 2 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |