Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80359604 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 10 | |||
rs587781629 | 0.851 | 0.200 | 13 | 32333388 | splice donor variant | G/A | snv | 5 | |||
rs80359351 | 0.851 | 0.200 | 13 | 32337161 | frameshift variant | ACAA/- | delins | 2.1E-05 | 6 | ||
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 | |||
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 | |||
rs587781803 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 5 | |||
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs431825362 | 0.925 | 0.080 | 13 | 32363187 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs80359035 | 0.882 | 0.200 | 13 | 32363211 | stop gained | C/A;G;T | snv | 4 | |||
rs80359705 | 0.851 | 0.200 | 13 | 32363499 | frameshift variant | C/- | del | 7.0E-06 | 5 | ||
rs869312760 | 0.882 | 0.080 | 13 | 32370486 | frameshift variant | TCGCTTTTCA/- | delins | 3 | |||
rs397507419 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 7 | ||
rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 8 | ||
rs80359180 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 6 | |||
rs80359200 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 12 | ||
rs80359763 | 0.851 | 0.240 | 13 | 32394864 | frameshift variant | GT/- | delins | 5 | |||
rs431825382 | 1.000 | 17 | 43045572 | 3 prime UTR variant | ACAG/- | delins | 1 | ||||
rs397507254 | 1.000 | 17 | 43045692 | frameshift variant | G/-;GG | delins | 2 | ||||
rs80359883 | 1.000 | 17 | 43045706 | frameshift variant | ATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG/- | del | 1 | ||||
rs886040305 | 1.000 | 17 | 43045710 | frameshift variant | GTAGG/- | delins | 1 | ||||
rs886040306 | 1.000 | 17 | 43045710 | frameshift variant | G/- | delins | 1 | ||||
rs80357629 | 0.925 | 0.200 | 17 | 43045711 | stop gained | -/T | delins | 7.0E-06 | 3 | ||
rs80357336 | 0.925 | 0.080 | 17 | 43045711 | stop gained | G/C;T | snv | 2 |