Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs71019893 | 1.000 | 0.080 | 11 | 236380 | intron variant | -/CCCGCGGC | ins | 5.0E-03; 0.10 | 1.6E-04 | 1 | |
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs72664207 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 6 | |
rs8089 | 0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 | 4 | ||
rs55791371 | 0.925 | 0.080 | 19 | 11077477 | intron variant | A/C | snv | 0.11 | 3 | ||
rs6809699 | 1.000 | 0.080 | 3 | 151338810 | synonymous variant | A/C | snv | 0.87 | 0.88 | 2 | |
rs1332329 | 1.000 | 0.080 | 10 | 89243662 | intron variant | A/C | snv | 0.38 | 1 | ||
rs3917010 | 1.000 | 0.080 | 1 | 100725310 | intron variant | A/C | snv | 0.18 | 1 | ||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 15 | |||
rs963968092 | 0.882 | 0.120 | 4 | 147485844 | missense variant | A/C;G | snv | 8.0E-06 | 3 | ||
rs7421388 | 0.925 | 0.080 | 2 | 198223806 | intron variant | A/C;G | snv | 2 | |||
rs11574915 | 1.000 | 0.080 | 9 | 34710087 | 5 prime UTR variant | A/C;G | snv | 0.13; 4.1E-06 | 1 | ||
rs2123731 | 1.000 | 0.080 | 19 | 4929461 | missense variant | A/C;G | snv | 8.1E-06; 0.30 | 1 | ||
rs35706870 | 1.000 | 0.080 | 10 | 67883859 | upstream gene variant | A/C;G | snv | 1 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 11 | ||
rs1144507 | 0.925 | 0.080 | 11 | 123729767 | missense variant | A/C;G;T | snv | 0.68 | 2 | ||
rs2019090 | 1.000 | 0.080 | 11 | 103798234 | intron variant | A/C;G;T | snv | 1 | |||
rs3786954 | 1.000 | 0.080 | 19 | 43768194 | intron variant | A/C;G;T | snv | 1 | |||
rs4407312 | 1.000 | 0.080 | 20 | 23826391 | intron variant | A/C;G;T | snv | 0.76; 4.1E-06; 6.6E-05 | 1 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs1271572 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 16 |