Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs549625604 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 13 | ||
rs121918327 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 12 | |
rs29001566 | 0.807 | 0.080 | 3 | 129533711 | missense variant | C/A;G;T | snv | 10 | |||
rs886039797 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 7 | ||
rs886039802 | 0.851 | 0.200 | 15 | 72712259 | stop gained | C/T | snv | 6 | |||
rs777103184 | 0.827 | 0.040 | 2 | 29073071 | stop gained | C/T | snv | 8.0E-06 | 6 | ||
rs199679165 | 0.827 | 0.200 | 1 | 216097196 | stop gained | G/A | snv | 1.6E-05 | 6 | ||
rs876657731 | 0.807 | 0.200 | 1 | 216073096 | splice donor variant | C/T | snv | 1.2E-05 | 6 | ||
rs1553348960 | 0.882 | 0.080 | 2 | 55870851 | missense variant | A/G | snv | 5 | |||
rs104893796 | 0.851 | 0.080 | 3 | 129529014 | missense variant | C/T | snv | 4 | |||
rs104894910 | 0.882 | 0.080 | X | 41473734 | missense variant | G/C | snv | 3 | |||
rs104893789 | 0.882 | 0.080 | 3 | 129532711 | missense variant | C/A | snv | 3 | |||
rs104893797 | 0.882 | 0.080 | 3 | 129528800 | missense variant | C/G | snv | 3 | |||
rs1555968874 | 0.925 | 0.040 | X | 86027530 | inframe deletion | AGC/- | delins | 2 | |||
rs369572769 | 0.925 | 0.080 | 20 | 62312259 | missense variant | C/T | snv | 2.5E-05 | 1.4E-05 | 2 | |
rs1448665709 | 1.000 | 0.040 | 4 | 154744844 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 |