Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557055405 | 0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv | 21 | |||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs587784105 | 0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv | 19 | |||
rs112550005 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 18 | |||
rs1566823361 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 18 | |||
rs267607144 | 0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv | 17 | |||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 17 | |||
rs61749721 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 17 | |||
rs797045412 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 17 | |||
rs727503057 | 0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 | 16 | ||
rs113422242 | 0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 | 14 | ||
rs1057520063 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 13 | |||
rs1561892336 | 0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv | 13 | |||
rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
rs6570507 | 0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 | 13 | ||
rs869320624 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 13 | ||
rs1555103652 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 11 | |||
rs1085308004 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 9 | |||
rs1561881909 | 0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins | 9 | |||
rs397507542 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 9 | |||
rs557849165 | 0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 | 9 | ||
rs1561898352 | 0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins | 8 | |||
rs1564341846 | 0.790 | 0.280 | 9 | 131508926 | missense variant | C/A | snv | 8 | |||
rs797045164 | 0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv | 8 | |||
rs886041287 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 8 |