Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 64 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 43 | ||
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 36 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 31 | |
rs429358 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 29 | |
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 25 | ||
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 25 | |
rs10401969 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 23 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 19 | |||
rs3764261 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 17 | ||
rs1421085 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 16 | ||
rs8050136 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 16 | ||
rs1057518907 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 16 | |||
rs1014959895 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 16 | ||
rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
rs1558902 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 14 | ||
rs549625604 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 13 | ||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 13 | |
rs7138803 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 12 | |||
rs80359473 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 12 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 12 | ||
rs10938397 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 11 | ||
rs3782886 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 11 | |
rs1051730 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 11 | |
rs1121980 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 11 |