Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893919 | 0.851 | 0.120 | 5 | 149978184 | stop gained | C/T | snv | 1.3E-04 | 1.2E-04 | 5 | |
rs104893924 | 0.851 | 0.120 | 5 | 149981550 | missense variant | T/A | snv | 1.1E-04 | 1.3E-04 | 5 | |
rs121908077 | 0.851 | 0.120 | 5 | 149980603 | inframe insertion | TGTTGT/-;TGT;TGTTGTTGT | delins | 3.5E-05 | 5 | ||
rs386833492 | 0.851 | 0.120 | 5 | 149960981 | splice donor variant | T/C | snv | 5.4E-04 | 5 | ||
rs386833498 | 0.851 | 0.120 | 5 | 149981316 | frameshift variant | A/- | delins | 5 | |||
rs763198695 | 0.851 | 0.120 | 5 | 149978135 | frameshift variant | TG/- | delins | 4.0E-06 | 7.0E-06 | 5 | |
rs766836061 | 0.851 | 0.120 | 5 | 149981300 | stop gained | C/G;T | snv | 4.0E-06 | 5 | ||
rs104893918 | 0.851 | 0.120 | 5 | 149981737 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 4 | |
rs1057517461 | 0.851 | 0.120 | 5 | 149978353 | splice donor variant | T/C | snv | 4 | |||
rs1057517462 | 0.851 | 0.120 | 5 | 149977857 | frameshift variant | T/- | delins | 4 | |||
rs1057517471 | 0.851 | 0.120 | 5 | 149980903 | frameshift variant | -/T | delins | 4 | |||
rs1057517474 | 0.851 | 0.120 | 5 | 149981546 | frameshift variant | ACTG/- | delins | 4 | |||
rs1057517482 | 0.851 | 0.120 | 5 | 149981240 | frameshift variant | A/- | delins | 4 | |||
rs1057517483 | 0.851 | 0.120 | 5 | 149978193 | stop gained | C/T | snv | 4 | |||
rs1057517495 | 0.851 | 0.120 | 5 | 149980515 | frameshift variant | A/- | del | 4 | |||
rs1057517496 | 0.851 | 0.120 | 5 | 149977840 | frameshift variant | A/- | del | 4 | |||
rs1057517502 | 0.851 | 0.120 | 5 | 149980929 | frameshift variant | A/- | delins | 4 | |||
rs1057517504 | 0.851 | 0.120 | 5 | 149977886 | frameshift variant | -/GCAGT | delins | 4 | |||
rs1057517511 | 0.851 | 0.120 | 5 | 149981129 | frameshift variant | -/GTTAT | delins | 4 | |||
rs1057517513 | 0.851 | 0.120 | 5 | 149981586 | frameshift variant | AC/- | delins | 4 | |||
rs1057517514 | 0.851 | 0.120 | 5 | 149980339 | stop gained | C/G | snv | 4 | |||
rs1057517523 | 0.851 | 0.120 | 5 | 149977837 | stop gained | C/G | snv | 4 | |||
rs1057517524 | 0.851 | 0.120 | 5 | 149980326 | frameshift variant | GTCT/- | delins | 4 | |||
rs1057517526 | 0.851 | 0.120 | 5 | 149980511 | frameshift variant | C/- | del | 4 | |||
rs1057517530 | 0.851 | 0.120 | 5 | 149981399 | frameshift variant | AACT/- | del | 4 |