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 | |||
rs1057516674 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 5 | |||
rs1801175 | 0.807 | 0.240 | 17 | 42903947 | missense variant | C/T | snv | 5.7E-04 | 3.4E-04 | 4 | |
rs104894563 | 0.925 | 0.080 | 17 | 42911235 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs104894565 | 0.925 | 0.080 | 17 | 42900989 | missense variant | A/G;T | snv | 8.0E-06 | 1 | ||
rs104894566 | 0.925 | 0.080 | 17 | 42901105 | missense variant | T/C | snv | 1 | |||
rs104894567 | 0.925 | 0.080 | 17 | 42904028 | missense variant | G/A | snv | 6.4E-05 | 3.5E-05 | 1 | |
rs104894568 | 0.925 | 0.080 | 17 | 42907552 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs104894569 | 0.925 | 0.080 | 17 | 42909407 | stop gained | G/A;T | snv | 1 | |||
rs104894571 | 0.925 | 0.080 | 17 | 42909353 | missense variant | T/C;G | snv | 1 | |||
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 | |||
rs1057517008 | 0.925 | 0.080 | 17 | 42901037 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
rs1057517227 | 1.000 | 0.080 | 17 | 42901011 | frameshift variant | C/- | delins | 1 | |||
rs1189630738 | 0.925 | 0.080 | 17 | 42909323 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 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 | |||
rs1457925404 | 1.000 | 0.080 | 17 | 42911059 | stop gained | G/A;C | snv | 7.0E-06 | 1 | ||
rs1485038937 | 1.000 | 0.080 | 17 | 42909416 | stop gained | C/G | snv | 4.0E-06 | 1 | ||
rs1555558920 | 1.000 | 0.080 | 17 | 42900926 | frameshift variant | -/TACCTCCAGGTGAATT | delins | 1 | |||
rs1555559279 | 1.000 | 0.080 | 17 | 42903930 | splice acceptor variant | G/A | snv | 1 | |||
rs1555559741 | 1.000 | 0.080 | 17 | 42907563 | stop gained | C/A | snv | 1 | |||
rs1555559991 | 1.000 | 0.080 | 17 | 42909372 | stop gained | C/A | snv | 1 | |||
rs1555560140 | 1.000 | 0.080 | 17 | 42911083 | stop gained | G/A | snv | 1 |