Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1567705064 | 1.000 | 0.080 | 17 | 42907570 | frameshift variant | ATGGTCACATCTA/- | del | 8 | |||
rs1801175 | 0.807 | 0.240 | 17 | 42903947 | missense variant | C/T | snv | 5.7E-04 | 3.4E-04 | 8 | |
rs1057516674 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 5 | |||
rs373345919 | 0.882 | 0.080 | 17 | 42909364 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 5 | |
rs80356482 | 0.851 | 0.160 | 17 | 42909418 | missense variant | G/A;C | snv | 1.6E-05; 5.2E-05 | 5 | ||
rs2229611 | 0.851 | 0.160 | 17 | 42911449 | 3 prime UTR variant | T/C | snv | 0.71 | 0.73 | 4 | |
rs104894571 | 0.925 | 0.080 | 17 | 42909353 | missense variant | T/C;G | snv | 3 | |||
rs80356483 | 0.925 | 0.080 | 17 | 42911161 | missense variant | G/T | snv | 8.0E-06 | 2.1E-05 | 3 | |
rs104894563 | 0.925 | 0.080 | 17 | 42911235 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 2 | |
rs104894565 | 0.925 | 0.080 | 17 | 42900989 | missense variant | A/G;T | snv | 8.0E-06 | 2 | ||
rs104894566 | 0.925 | 0.080 | 17 | 42901105 | missense variant | T/C | snv | 2 | |||
rs104894567 | 0.925 | 0.080 | 17 | 42904028 | missense variant | G/A | snv | 6.4E-05 | 3.5E-05 | 2 | |
rs104894568 | 0.925 | 0.080 | 17 | 42907552 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs104894569 | 0.925 | 0.080 | 17 | 42909407 | stop gained | G/A;T | snv | 2 | |||
rs1057517008 | 0.925 | 0.080 | 17 | 42901037 | missense variant | A/C | snv | 7.0E-06 | 2 | ||
rs1189630738 | 0.925 | 0.080 | 17 | 42909323 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs1801176 | 0.925 | 0.080 | 17 | 42903948 | missense variant | G/A | snv | 4.4E-05 | 1.4E-05 | 2 | |
rs367727229 | 0.925 | 0.080 | 17 | 42911364 | missense variant | G/A;T | snv | 5.2E-05; 1.2E-05 | 2 | ||
rs387906505 | 0.925 | 0.080 | 17 | 42911374 | missense variant | T/A | snv | 2.8E-05 | 2 | ||
rs1057516367 | 1.000 | 0.080 | 17 | 42900955 | stop gained | C/T | snv | 1 | |||
rs1057516630 | 1.000 | 0.080 | 17 | 42909354 | frameshift variant | -/T | delins | 1 | |||
rs1057516858 | 1.000 | 0.080 | 17 | 42911207 | frameshift variant | G/- | delins | 1 | |||
rs1057517227 | 1.000 | 0.080 | 17 | 42901011 | frameshift variant | C/- | delins | 1 | |||
rs1411037881 | 1.000 | 0.080 | 17 | 42909302 | splice acceptor variant | G/A | snv | 7.0E-06 | 1 | ||
rs142917638 | 1.000 | 0.080 | 17 | 42903958 | stop gained | G/A | snv | 1 |