Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs7270101 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 10 | |
rs1539019 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 6 | ||
rs16851720 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 5 | ||
rs1133763 | 0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 | 4 | |
rs2305482 | 0.851 | 0.200 | 17 | 39984674 | intron variant | A/C | snv | 0.57 | 4 | ||
rs1486872705 | 0.882 | 0.120 | 9 | 135562884 | missense variant | A/C | snv | 7.0E-06 | 3 | ||
rs6051702 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 3 | ||
rs3017887 | 0.925 | 0.120 | 11 | 89492920 | intron variant | A/C | snv | 0.81 | 2 | ||
rs7553796 | 0.925 | 0.120 | 1 | 154431930 | intron variant | A/C | snv | 0.60 | 2 | ||
rs6726639 | 1.000 | 0.080 | 2 | 111995520 | intron variant | A/C | snv | 0.62 | 1 | ||
rs4969170 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 11 | ||
rs8878 | 0.827 | 0.280 | 4 | 76021147 | 3 prime UTR variant | A/C;G | snv | 5 | |||
rs2228055 | 0.851 | 0.280 | 11 | 117994131 | missense variant | A/C;G | snv | 8.2E-02 | 4 | ||
rs2647006 | 1.000 | 0.080 | 6 | 32692805 | intergenic variant | A/C;G | snv | 1 | |||
rs3212172 | 1.000 | 0.080 | 20 | 44399750 | intron variant | A/C;G | snv | 1 | |||
rs3817656 | 1.000 | 0.080 | 17 | 35872158 | 3 prime UTR variant | A/C;G | snv | 1 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs179019 | 0.882 | 0.160 | X | 12871850 | intron variant | A/C;T | snv | 3 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |