Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060500091 | 0.882 | 0.120 | 3 | 128481887 | missense variant | A/C | snv | 4 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs12619285 | 1.000 | 0.040 | 2 | 212959321 | intron variant | A/G | snv | 0.31 | 3 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs1217371203 | 0.882 | 0.120 | 3 | 122106342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs587782477 | 0.882 | 0.120 | 5 | 112775679 | missense variant | A/T | snv | 4 | |||
rs1555257073 | 0.827 | 0.120 | 13 | 28672407 | frameshift variant | AT/- | delins | 25 | |||
rs121917894 | 0.851 | 0.160 | 11 | 36593483 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 5 | ||
rs2416257 | 0.882 | 0.160 | 5 | 111099792 | intron variant | C/G;T | snv | 5 | |||
rs4431128 | 1.000 | 0.040 | 3 | 128532835 | TF binding site variant | C/G;T | snv | 2 | |||
rs1420101 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 8 | |
rs754092062 | 1.000 | 0.040 | 4 | 54258785 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 2 | |
rs2269426 | 0.807 | 0.280 | 6 | 32108722 | intron variant | G/A | snv | 0.35 | 10 | ||
rs148943384 | 1.000 | 0.040 | 9 | 6254467 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 2 | |
rs37973 | 0.807 | 0.280 | 7 | 7968245 | intron variant | G/A;C | snv | 7 | |||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs3939286 | 0.776 | 0.360 | 9 | 6210099 | regulatory region variant | T/A;C | snv | 12 | |||
rs9494145 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 11 | |||
rs941934 | 0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv | 5 | |||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs938448224 | 0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 | 7 | ||
rs4143832 | 0.925 | 0.080 | 5 | 132527285 | intron variant | T/G | snv | 0.76 | 4 |