Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 11 | ||
rs80359200 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 12 | ||
rs80359604 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 10 | |||
rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 8 | ||
rs397507419 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 7 | ||
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs80359180 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 6 | |||
rs80359351 | 0.851 | 0.200 | 13 | 32337161 | frameshift variant | ACAA/- | delins | 2.1E-05 | 6 | ||
rs587781629 | 0.851 | 0.200 | 13 | 32333388 | splice donor variant | G/A | snv | 5 | |||
rs587781803 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 5 | |||
rs80359477 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 5 | |||
rs80359484 | 0.851 | 0.200 | 13 | 32339483 | frameshift variant | TGTA/- | delins | 5 | |||
rs80359705 | 0.851 | 0.200 | 13 | 32363499 | frameshift variant | C/- | del | 7.0E-06 | 5 | ||
rs80359763 | 0.851 | 0.240 | 13 | 32394864 | frameshift variant | GT/- | delins | 5 | |||
rs80359035 | 0.882 | 0.200 | 13 | 32363211 | stop gained | C/A;G;T | snv | 4 | |||
rs1555283322 | 0.882 | 0.200 | 13 | 32337987 | frameshift variant | A/-;AA | delins | 3 | |||
rs869312759 | 0.882 | 0.200 | 13 | 32338043 | frameshift variant | CT/- | delins | 3 | |||
rs869312760 | 0.882 | 0.080 | 13 | 32370486 | frameshift variant | TCGCTTTTCA/- | delins | 3 | |||
rs431825362 | 0.925 | 0.080 | 13 | 32363187 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 16 | ||
rs41293459 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 12 | ||
rs28897696 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 11 | ||
rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 11 | ||
rs80357382 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 11 | ||
rs80357796 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 11 |