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 | 35 | ||
rs121912469 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 2 | |||
rs1434545235 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 11 | ||
rs79184941 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 18 | ||
rs77543610 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 12 | |||
rs121918505 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 3 | |||
rs1057519044 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 11 | |||
rs121918487 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 24 | |||
rs121918491 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 14 | ||
rs121913478 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 13 | |||
rs1554927408 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 11 | |||
rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 13 | |||
rs1554085355 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 5 | |||
rs28933379 | 1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv | 2 | |||
rs137854571 | 1.000 | 0.120 | 5 | 112838793 | stop gained | C/T | snv | 2 | |||
rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 8 | |||
rs863225311 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 7 | |||
rs876660765 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 6 | |||
rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 8 | |||
rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 7 | ||
rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 | |||
rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 |