Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913376 | 0.925 | 0.080 | 7 | 140781597 | missense variant | C/A;T | snv | 1 | |||
rs1057519789 | 1.000 | 0.080 | 1 | 162775707 | missense variant | A/G;T | snv | 4.0E-06 | 1 | ||
rs1057519790 | 1.000 | 0.080 | 1 | 162778617 | missense variant | G/T | snv | 1 | |||
rs144594252 | 0.882 | 0.080 | 1 | 162754625 | missense variant | C/G | snv | 6.8E-05 | 5.6E-05 | 1 | |
rs376303676 | 1.000 | 0.080 | 1 | 162759881 | missense variant | G/A;T | snv | 8.0E-06 | 1 | ||
rs578015216 | 1.000 | 0.080 | 1 | 162759840 | missense variant | T/C;G | snv | 2.8E-05 | 1 | ||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 1 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 1 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 1 | |||
rs34192549 | 1.000 | 0.080 | 1 | 16137994 | missense variant | C/G;T | snv | 2.5E-02 | 1 | ||
rs1057519791 | 1.000 | 0.080 | 10 | 121518810 | missense variant | G/C | snv | 1 | |||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs764449808 | 1.000 | 0.080 | 19 | 1218494 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 1 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs150036236 | 0.925 | 0.080 | 7 | 55191741 | missense variant | G/A | snv | 4.8E-05 | 3.5E-05 | 2 | |
rs397517097 | 0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv | 2 | |||
rs121918499 | 0.925 | 0.160 | 10 | 121520048 | missense variant | C/A;G | snv | 2 | |||
rs763733111 | 0.925 | 0.120 | 9 | 125149801 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1057520039 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 2 | |||
rs730881972 | 1.000 | 0.080 | 19 | 1220395 | missense variant | G/C;T | snv | 2 | |||
rs121913444 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 3 | |||
rs121913465 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 3 | |||
rs104894104 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 4 | |||
rs121913428 | 0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv | 4 |