Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs1057517590 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 2 | ||||
rs1057518635 | 1.000 | 13 | 32340367 | frameshift variant | ATAG/- | delins | 2 | ||||
rs1057518636 | 1.000 | 17 | 43047646 | frameshift variant | -/A | ins | 3 | ||||
rs1057518637 | 1.000 | 13 | 32336621 | stop gained | C/G;T | snv | 3 | ||||
rs1057518638 | 1.000 | 13 | 32339317 | stop gained | T/A | snv | 2 | ||||
rs1057519045 | 0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv | 6 | |||
rs1057519699 | 3 | 179218315 | missense variant | G/A | snv | 2 | |||||
rs1057519714 | 6 | 152094402 | missense variant | T/C | snv | 1 | |||||
rs1057519715 | 1.000 | 0.080 | 6 | 152098779 | missense variant | T/A | snv | 1 | |||
rs1057519716 | 6 | 152098782 | missense variant | C/A | snv | 1 | |||||
rs1057519717 | 6 | 152098785 | missense variant | T/G | snv | 1 | |||||
rs1057519724 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 3 | |||
rs1057519727 | 15 | 28260829 | missense variant | A/G | snv | 1 | |||||
rs1057519737 | 17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins | 1 | |||||
rs1057519738 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 17 | |||
rs1057519787 | 1.000 | 0.040 | 17 | 39711952 | missense variant | G/A;C | snv | 2 | |||
rs1057519816 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 10 | |||
rs1057519825 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 1 | |||
rs1057519826 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 1 |