Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104886458 | 0.882 | 0.120 | 9 | 95101723 | missense variant | A/G | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs1055368753 | 0.925 | 0.120 | 17 | 43092010 | missense variant | G/A | snv | 2 | |||
rs1057516430 | 0.925 | 0.120 | 16 | 89811060 | stop gained | G/A | snv | 2 | |||
rs1060501887 | 0.925 | 0.120 | 16 | 89738881 | splice donor variant | C/T | snv | 2 | |||
rs11571707 | 0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 | 7 | |
rs1173704265 | 1.000 | 0.120 | 16 | 89767208 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs1184639006 | 1.000 | 0.120 | 16 | 89803333 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
rs1188581065 | 1.000 | 0.120 | 16 | 89767140 | splice donor variant | C/A | snv | 7.0E-06 | 1 | ||
rs1205909298 | 1.000 | 0.120 | 16 | 89767218 | frameshift variant | A/- | delins | 7.0E-06 | 1 | ||
rs121434426 | 0.882 | 0.120 | 9 | 35076442 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
rs1216426444 | 1.000 | 0.120 | 16 | 89764940 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121907930 | 1.000 | 0.120 | 16 | 89810716 | stop gained | C/T | snv | 1 | |||
rs121917783 | 0.851 | 0.200 | 9 | 95150056 | stop gained | G/A | snv | 5.6E-05 | 1.0E-04 | 6 | |
rs1232171121 | 0.925 | 0.120 | 16 | 89814519 | splice donor variant | C/A;T | snv | 2 | |||
rs1247378731 | 1.000 | 0.120 | 16 | 89767213 | stop gained | G/A;C;T | snv | 4.0E-06; 1.2E-05; 4.0E-06 | 1 | ||
rs1278836130 | 1.000 | 0.120 | 16 | 89758648 | frameshift variant | T/- | del | 4.0E-06 | 1 | ||
rs1283284704 | 1.000 | 0.120 | 16 | 89761970 | stop gained | -/TCAGGTTGAATTTCCAGCT | delins | 4.0E-06 | 2.1E-05 | 1 | |
rs1285346388 | 1.000 | 0.120 | 16 | 89758702 | splice acceptor variant | CTAGAACAGCAAACACTGC/- | delins | 1 | |||
rs1291524243 | 0.925 | 0.120 | 16 | 89799203 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
rs1302083447 | 0.925 | 0.120 | 16 | 89764930 | missense variant | T/G | snv | 7.0E-06 | 2 | ||
rs1348367722 | 1.000 | 0.120 | 16 | 89799192 | frameshift variant | -/GACT | delins | 4.0E-06 | 1 | ||
rs1365019056 | 1.000 | 0.120 | 16 | 89810706 | splice donor variant | C/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1381684916 | 1.000 | 0.120 | 16 | 89744993 | stop gained | G/A | snv | 1 | |||
rs1388128874 | 1.000 | 0.120 | 16 | 89803342 | splice acceptor variant | C/A;G | snv | 1 |