Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs144900171 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 5 | ||
rs80338708 | 1.000 | 0.080 | 16 | 8847794 | missense variant | C/G;T | snv | 1.3E-04; 4.4E-05 | 3 | ||
rs80338677 | 0.925 | 0.080 | 19 | 12655693 | splice donor variant | C/G | snv | 9.3E-05 | 7.7E-05 | 4 | |
rs587779406 | 1.000 | 0.120 | 15 | 72346552 | synonymous variant | G/A | snv | 8.0E-05 | 1.0E-04 | 3 | |
rs121918103 | 1.000 | 0.120 | 10 | 71828084 | missense variant | G/A | snv | 7.6E-05 | 1.4E-05 | 2 | |
rs148234606 | 0.925 | 8 | 144360604 | missense variant | T/C | snv | 7.0E-05 | 7.7E-05 | 4 | ||
rs104894639 | 0.925 | 0.120 | 17 | 80210622 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 | 3 | |
rs377025174 | 2 | 218661192 | missense variant | C/A;T | snv | 4.0E-06; 6.8E-05 | 1 | ||||
rs149474131 | 16 | 89513008 | stop gained | C/A;G;T | snv | 4.0E-06; 5.7E-05; 4.9E-05 | 1 | ||||
rs201296399 | 7 | 66633320 | missense variant | A/G | snv | 5.6E-05 | 4.9E-05 | 1 | |||
rs778127154 | 1.000 | 0.120 | 6 | 24515259 | frameshift variant | T/- | del | 5.6E-05 | 4 | ||
rs113994048 | 1.000 | 0.040 | 3 | 184136734 | missense variant | A/T | snv | 4.4E-05 | 2.1E-05 | 2 | |
rs1468358104 | 1 | 212858454 | start lost | T/C | snv | 3.7E-05 | 3 | ||||
rs139515727 | 1.000 | 6 | 30915985 | missense variant | C/T | snv | 3.2E-05 | 1.0E-04 | 2 | ||
rs545986367 | 0.882 | 0.080 | 21 | 43774690 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 4 | |
rs746882521 | 0.925 | 18 | 62143337 | missense variant | A/C | snv | 3.0E-05 | 4.9E-05 | 4 | ||
rs386834124 | 0.925 | 0.120 | 8 | 1771263 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 4 | |
rs754320812 | 0.925 | 8 | 144360427 | missense variant | T/C | snv | 2.4E-05 | 3.5E-05 | 4 | ||
rs587777585 | 0.882 | 6 | 30918851 | missense variant | C/G;T | snv | 2.4E-05 | 6 | |||
rs397515440 | 1.000 | 14 | 31599310 | missense variant | G/T | snv | 2.0E-05 | 2.8E-05 | 3 | ||
rs767889331 | 18 | 7012105 | stop gained | G/A;C;T | snv | 2.0E-05; 4.0E-06; 4.0E-06 | 2 | ||||
rs768131676 | 1.000 | 0.080 | 3 | 25732339 | stop gained | G/A | snv | 2.0E-05 | 2.8E-05 | 2 | |
rs387906639 | 0.925 | 0.120 | 5 | 140674776 | missense variant | T/G | snv | 2.0E-05 | 9.1E-05 | 4 | |
rs760265100 | 16 | 8797935 | missense variant | C/G | snv | 1.7E-05 | 1.4E-05 | 1 | |||
rs750451693 | 3 | 149210191 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 1 |