Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs9266150 | 0.925 | 0.040 | 6 | 31356368 | missense variant | A/C;G;T | snv | 0.12; 7.9E-05; 3.8E-04 | 3 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs2297235 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 11 | ||
rs3024496 | 0.827 | 0.200 | 1 | 206768519 | 3 prime UTR variant | A/G | snv | 0.43 | 6 | ||
rs1133400 | 1.000 | 0.080 | 10 | 132645884 | missense variant | A/G | snv | 0.22 | 0.18 | 4 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs156697 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 25 | ||
rs1650697 | 0.925 | 0.120 | 5 | 80654962 | missense variant | A/G;T | snv | 0.86 | 3 | ||
rs3790064 | 14 | 20472910 | non coding transcript exon variant | A/G;T | snv | 1 | |||||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs4925 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 28 | |
rs1043673 | 19 | 55000864 | missense variant | C/A | snv | 0.37 | 0.39 | 2 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs769255883 | 1.000 | 0.160 | 9 | 97689592 | stop gained | C/A;G;T | snv | 1.2E-05; 5.6E-05 | 2 | ||
rs897453 | 1.000 | 0.080 | 17 | 17522317 | missense variant | C/A;G;T | snv | 8.0E-06; 0.34 | 2 | ||
rs9989407 | 16 | 68730609 | intergenic variant | C/A;G;T | snv | 1 | |||||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs12919719 | 16 | 68788438 | intron variant | C/G | snv | 0.25 | 1 | ||||
rs6504649 | 0.882 | 0.280 | 17 | 50360095 | missense variant | C/G;T | snv | 0.33; 3.2E-05 | 4 | ||
rs7196495 | 16 | 68739957 | intron variant | C/G;T | snv | 1 |