Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2246012 | 1.000 | 0.080 | 6 | 131577068 | intron variant | T/A;C | snv | 2 | |||
rs2296172 | 1.000 | 0.080 | 1 | 39370145 | missense variant | A/G;T | snv | 0.19; 8.0E-06 | 4 | ||
rs2299383 | 1.000 | 0.080 | 7 | 103778399 | intron variant | C/T | snv | 0.41 | 2 | ||
rs2304130 | 1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 | 5 | |
rs2307111 | 0.925 | 0.120 | 5 | 75707853 | missense variant | T/A;C | snv | 4.5E-06; 0.47 | 5 | ||
rs2867125 | 0.925 | 0.120 | 2 | 622827 | intergenic variant | T/A;C | snv | 0.85 | 6 | ||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 8 | |||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 73 | ||
rs329122 | 1.000 | 0.080 | 5 | 134528909 | intron variant | G/A | snv | 0.45 | 2 | ||
rs340874 | 0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 | 4 | ||
rs35261542 | 1.000 | 0.080 | 6 | 20675561 | intron variant | C/A | snv | 0.26 | 3 | ||
rs3751812 | 0.882 | 0.160 | 16 | 53784548 | intron variant | G/T | snv | 0.30 | 7 | ||
rs3802177 | 1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 | 4 | ||
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 36 | ||
rs4506565 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 19 | |||
rs4865796 | 1.000 | 0.080 | 5 | 53976834 | intron variant | G/A | snv | 0.72 | 3 | ||
rs5215 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 3 | |
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 5 | ||
rs562338 | 0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 | 20 | ||
rs6857 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 15 | ||
rs6947395 | 1.000 | 0.080 | 7 | 69941675 | intron variant | A/T | snv | 0.20 | 2 | ||
rs7020996 | 0.925 | 0.120 | 9 | 22129580 | downstream gene variant | C/A;T | snv | 3 | |||
rs7034200 | 1.000 | 0.080 | 9 | 4289050 | intron variant | C/A;G | snv | 3 | |||
rs7144011 | 1.000 | 0.080 | 14 | 79474040 | intron variant | G/T | snv | 0.21 | 4 | ||
rs7173964 | 1.000 | 0.080 | 15 | 62104743 | regulatory region variant | G/A | snv | 0.49 | 3 |