Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057523354 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 13 | |||
rs398122394 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 16 | |||
rs121918327 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 12 | |
rs781984979 | 0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 | 11 | ||
rs781939614 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 11 | ||
rs121434621 | 0.882 | 0.120 | X | 154154602 | missense variant | T/C | snv | 1 | |||
rs104894914 | 0.851 | 0.120 | X | 154191716 | missense variant | T/C | snv | 2 | |||
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs80338747 | 0.925 | 0.320 | 2 | 169205630 | missense variant | A/G | snv | 1 | |||
rs1243762658 | 0.851 | 0.160 | 4 | 182754413 | missense variant | C/A;G | snv | 4.2E-06 | 7.0E-06 | 5 | |
rs755000701 | 0.851 | 0.160 | 4 | 182799938 | missense variant | C/T | snv | 9.2E-06 | 1.4E-05 | 5 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 2 | |
rs1555302200 | 0.925 | 0.120 | 14 | 21326029 | frameshift variant | -/TT | delins | 4 | |||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs875989800 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 33 | |||
rs199473457 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 11 | |||
rs121907922 | 0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv | 12 | |||
rs886043994 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 21 | |||
rs1057519444 | 0.925 | 0.120 | 22 | 32518208 | missense variant | GG/AA | mnv | 5 | |||
rs775081992 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 5 | ||
rs751375244 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 6 | |
rs1567941252 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 10 | |||
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 2 | |
rs779027563 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 58 |