Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs316019 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 8 | |
rs1549758 | 0.807 | 0.360 | 7 | 150998638 | synonymous variant | T/C | snv | 0.76 | 0.76 | 7 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1926447 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 11 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs1056534 | 0.882 | 0.200 | 17 | 82750725 | synonymous variant | C/A;G;T | snv | 0.62 | 5 | ||
rs713041 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 16 | ||
rs3752462 | 0.827 | 0.160 | 22 | 36314138 | splice region variant | T/C | snv | 0.57 | 0.53 | 7 | |
rs12708815 | 1.000 | 0.120 | 16 | 17134511 | synonymous variant | G/A;C | snv | 0.56 | 1 | ||
rs237025 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 26 | |
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs2305619 | 0.882 | 0.240 | 3 | 157437072 | intron variant | A/G | snv | 0.55 | 0.50 | 3 | |
rs1800775 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 18 | ||
rs10770125 | 0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 | 4 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs1298908 | 1.000 | 0.120 | 10 | 80253378 | non coding transcript exon variant | C/T | snv | 0.48 | 0.53 | 1 | |
rs4783961 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 7 | |
rs11651270 | 0.882 | 0.240 | 17 | 5521757 | missense variant | T/C | snv | 0.45 | 0.47 | 4 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs660339 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 24 | |
rs2259816 | 0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 | 8 | ||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 |