Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1353759920 | 0.851 | 0.120 | 1 | 3707593 | missense variant | C/A | snv | 2.1E-05 | 4 | ||
rs121908689 | 0.925 | 0.120 | 1 | 46272758 | missense variant | T/A | snv | 2 | |||
rs121909775 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
rs28936699 | 1.000 | 0.120 | 2 | 201209388 | missense variant | C/T | snv | 1 | |||
rs398122800 | 1.000 | 0.120 | 2 | 201209189 | frameshift variant | -/A | ins | 1 | |||
rs267601395 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 7 | |||
rs75002266 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 6 | |
rs1057519952 | 0.882 | 0.160 | 3 | 49375577 | missense variant | G/A | snv | 5 | |||
rs2070673 | 0.827 | 0.160 | 10 | 133527063 | non coding transcript exon variant | A/T | snv | 0.67 | 5 | ||
rs1057519954 | 0.882 | 0.160 | 3 | 49375465 | missense variant | T/A;C;G | snv | 4 | |||
rs1057519894 | 0.925 | 0.160 | 7 | 148811650 | missense variant | T/A;G | snv | 2 | |||
rs13706 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 11 | ||
rs2305160 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 9 | |
rs1057519953 | 0.807 | 0.200 | 3 | 49375576 | missense variant | C/A;T | snv | 8 | |||
rs267601394 | 0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv | 8 | |||
rs756091827 | 0.851 | 0.200 | 8 | 127738435 | missense variant | C/G;T | snv | 6 | |||
rs1057519918 | 0.851 | 0.200 | 8 | 127738390 | missense variant | C/T | snv | 5 | |||
rs750664148 | 0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv | 5 | |||
rs1057519941 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 10 | |||
rs398122820 | 0.790 | 0.240 | 15 | 44715641 | missense variant | G/A | snv | 8 | |||
rs1057519909 | 0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv | 7 | |||
rs63750042 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 6 | ||
rs760228510 | 0.925 | 0.240 | 7 | 5999182 | stop gained | G/A;C | snv | 6 | |||
rs34767364 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 20 | ||
rs2167270 | 0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 | 17 |