Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267607055 | 1.000 | 0.120 | 5 | 149978050 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs386833493 | 1.000 | 0.120 | 5 | 149980750 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs386833494 | 1.000 | 0.120 | 5 | 149980834 | frameshift variant | AAAC/- | delins | 1 | |||
rs386833496 | 1.000 | 0.120 | 5 | 149981044 | missense variant | G/A | snv | 1.4E-05 | 1 | ||
rs386833500 | 1.000 | 0.120 | 5 | 149981576 | frameshift variant | A/- | del | 1 | |||
rs386833501 | 1.000 | 0.120 | 5 | 149981713 | frameshift variant | TT/- | del | 1 | |||
rs386833502 | 1.000 | 0.120 | 5 | 149977906 | frameshift variant | C/- | delins | 1 | |||
rs386833503 | 1.000 | 0.120 | 5 | 149977983 | missense variant | G/T | snv | 1 | |||
rs386833505 | 1.000 | 0.120 | 5 | 149977699 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
rs386833506 | 1.000 | 0.120 | 5 | 149978148 | missense variant | G/A | snv | 1 | |||
rs386833508 | 1.000 | 0.120 | 5 | 149980296 | frameshift variant | GATGGGC/- | delins | 1 | |||
rs386833509 | 1.000 | 0.120 | 5 | 149980496 | frameshift variant | CT/- | delins | 1 | |||
rs104893920 | 0.882 | 0.120 | 5 | 149980866 | missense variant | A/G | snv | 2 | |||
rs104893921 | 0.925 | 0.120 | 5 | 149980954 | missense variant | A/C | snv | 7.0E-06 | 2 | ||
rs121908078 | 0.925 | 0.120 | 5 | 149981128 | missense variant | C/A | snv | 4.8E-05 | 7.0E-06 | 2 | |
rs200963884 | 0.925 | 0.120 | 5 | 149980292 | splice acceptor variant | G/C | snv | 4.9E-05 | 2 | ||
rs386833507 | 1.000 | 0.120 | 5 | 149977707 | stop gained | G/T | snv | 2 | |||
rs104893916 | 0.882 | 0.120 | 5 | 149981626 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 3 | |
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 |