Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs756421370 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 8 | |
rs1057519286 | 0.882 | 0.080 | 1 | 29196234 | stop gained | A/C;G | snv | 3 | |||
rs886041091 | 0.807 | 0.120 | 9 | 84751990 | missense variant | A/G | snv | 18 | |||
rs284489 | 0.882 | 0.080 | 8 | 104945792 | intron variant | A/G | snv | 0.45 | 1 | ||
rs672601371 | 0.925 | 0.080 | 2 | 240783791 | missense variant | A/T | snv | 4 | |||
rs746681765 | 0.882 | 0.080 | 5 | 110761543 | missense variant | C/A;T | snv | 2.8E-05 | 1 | ||
rs672601366 | 0.851 | 0.120 | 2 | 240786339 | missense variant | C/G | snv | 6 | |||
rs780533096 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 44 | ||
rs387906930 | 0.790 | 0.360 | 4 | 6301846 | missense variant | C/G;T | snv | 2 | |||
rs28939714 | 0.882 | 0.160 | 11 | 47582140 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs672601369 | 0.790 | 0.120 | 2 | 240783780 | missense variant | C/T | snv | 10 | |||
rs374997012 | 0.851 | 0.280 | 10 | 100989114 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 9 | |
rs672601363 | 0.851 | 0.080 | 2 | 240788109 | missense variant | C/T | snv | 6 | |||
rs1057517686 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 5 | |||
rs1555303073 | 0.851 | 0.120 | 13 | 110176912 | missense variant | C/T | snv | 5 | |||
rs2157719 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 4 | ||
rs119103265 | 0.827 | 0.120 | 1 | 12002033 | missense variant | C/T | snv | 3 | |||
rs730882240 | 1.000 | 0.080 | 16 | 574693 | stop gained | C/T | snv | 2.1E-05 | 3 | ||
rs762913101 | 0.882 | 0.080 | 1 | 29202004 | missense variant | C/T | snv | 7.2E-05 | 2.1E-05 | 3 | |
rs201754030 | 0.925 | 0.200 | 12 | 57796461 | stop gained | C/T | snv | 1.5E-03 | 1.3E-03 | 2 | |
rs80356524 | 0.882 | 0.200 | 19 | 45553777 | missense variant | C/T | snv | 2 | |||
rs104893753 | 0.925 | 0.080 | 3 | 193643005 | stop gained | C/T | snv | 1 | |||
rs104894270 | 0.882 | 0.160 | 11 | 47582436 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
rs587777175 | 0.925 | 0.080 | 3 | 100728759 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 1 |