Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519699 | 3 | 179218315 | missense variant | G/A | snv | 2 | |||||
rs1057519740 | 18 | 51065532 | missense variant | C/A | snv | 1 | |||||
rs1057519741 | 18 | 51078417 | missense variant | G/T | snv | 1 | |||||
rs1057519754 | 19 | 40236313 | missense variant | T/C | snv | 1 | |||||
rs1057519760 | 7 | 55160314 | missense variant | A/G | snv | 1 | |||||
rs121913326 | 5 | 112839729 | stop gained | G/T | snv | 1 | |||||
rs121913328 | 5 | 112839693 | stop gained | C/T | snv | 1 | |||||
rs121913329 | 5 | 112839726 | stop gained | C/T | snv | 1 | |||||
rs121913462 | 5 | 112839510 | stop gained | G/A;T | snv | 1 | |||||
rs1414521156 | 5 | 102459731 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs587780424 | 3 | 12433975 | missense variant | A/C | snv | 1 | |||||
rs74535574 | 5 | 112839879 | stop gained | C/A;T | snv | 1 | |||||
rs770292690 | 12 | 109908872 | missense variant | C/T | snv | 5.6E-05 | 9.8E-05 | 1 | |||
rs869312784 | 5 | 112838674 | missense variant | A/G | snv | 1 | |||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 78 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 |