Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs764109067 | 0.851 | 0.280 | 3 | 94036664 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs886039810 | 0.851 | 0.480 | 8 | 93809830 | missense variant | G/C | snv | 5 | |||
rs886039808 | 0.851 | 0.480 | 12 | 88083848 | stop gained | C/T | snv | 5 | |||
rs886039794 | 0.851 | 0.480 | 8 | 85109594 | splice acceptor variant | G/C | snv | 8 | |||
rs886039807 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 11 | ||
rs886039809 | 0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del | 11 | |||
rs886039797 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 7 | ||
rs886039814 | 0.807 | 0.200 | 4 | 39218060 | missense variant | C/G | snv | 13 | |||
rs751375244 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 6 | |
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs786205636 | 0.827 | 0.320 | 2 | 169493750 | missense variant | G/A | snv | 7 | |||
rs104893918 | 0.851 | 0.120 | 5 | 149981737 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 4 | |
rs386833501 | 1.000 | 0.120 | 5 | 149981713 | frameshift variant | TT/- | del | 1 | |||
rs104893916 | 0.882 | 0.120 | 5 | 149981626 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs1057517513 | 0.851 | 0.120 | 5 | 149981586 | frameshift variant | AC/- | delins | 4 | |||
rs386833500 | 1.000 | 0.120 | 5 | 149981576 | frameshift variant | A/- | del | 1 | |||
rs762137330 | 0.851 | 0.120 | 5 | 149981575 | frameshift variant | C/- | del | 8.0E-06 | 4 | ||
rs386833499 | 0.851 | 0.120 | 5 | 149981565 | frameshift variant | T/- | delins | 4 | |||
rs104893924 | 0.851 | 0.120 | 5 | 149981550 | missense variant | T/A | snv | 1.1E-04 | 1.3E-04 | 5 | |
rs1057517474 | 0.851 | 0.120 | 5 | 149981546 | frameshift variant | ACTG/- | delins | 4 | |||
rs1057517530 | 0.851 | 0.120 | 5 | 149981399 | frameshift variant | AACT/- | del | 4 | |||
rs386833498 | 0.851 | 0.120 | 5 | 149981316 | frameshift variant | A/- | delins | 5 | |||
rs766836061 | 0.851 | 0.120 | 5 | 149981300 | stop gained | C/G;T | snv | 4.0E-06 | 5 | ||
rs386833497 | 0.851 | 0.120 | 5 | 149981243 | frameshift variant | G/- | del | 8.0E-06 | 2.8E-05 | 4 | |
rs1057517482 | 0.851 | 0.120 | 5 | 149981240 | frameshift variant | A/- | delins | 4 |