Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6025 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 43 | ||
rs6131 | 0.851 | 0.200 | 1 | 169611647 | missense variant | C/T | snv | 0.20 | 0.22 | 4 | |
rs6136 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 17 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs751377893 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 65 | ||
rs1042031 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 11 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 15 | |||
rs693 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 24 | |
rs1063537 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 6 | ||
rs10937273 | 0.882 | 0.160 | 3 | 186831906 | downstream gene variant | G/A | snv | 0.33 | 4 | ||
rs12495941 | 0.851 | 0.280 | 3 | 186850391 | intron variant | G/T | snv | 0.35 | 5 | ||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs1648707 | 0.925 | 0.080 | 3 | 186833922 | intergenic variant | A/C | snv | 0.43 | 3 | ||
rs17366568 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 6 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 19 | ||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs3774261 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 10 | ||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs864265 | 0.925 | 0.080 | 3 | 186836503 | intergenic variant | T/G | snv | 0.86 | 4 | ||
rs9860747 | 0.925 | 0.080 | 3 | 186869628 | regulatory region variant | T/C | snv | 0.70 | 2 |