Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6050446 | 20 | 25214873 | stop gained | A/G;T | snv | 0.98 | 1 | ||||
rs643507 | 1.000 | 0.080 | 18 | 2946293 | non coding transcript exon variant | C/T | snv | 0.96 | 0.92 | 1 | |
rs942637 | 1.000 | 0.080 | 6 | 33685334 | intron variant | T/A;C | snv | 0.92 | 2 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 25 | ||
rs9636391 | 2 | 49973972 | missense variant | A/G | snv | 0.85 | 0.82 | 1 | |||
rs3738476 | 1 | 151034063 | synonymous variant | C/A;G | snv | 0.85; 7.6E-04 | 1 | ||||
rs754635 | 1.000 | 0.040 | 3 | 42263639 | splice region variant | C/G;T | snv | 0.84; 5.6E-06 | 2 | ||
rs7601000 | 2 | 241671358 | missense variant | T/A | snv | 0.82 | 0.83 | 1 | |||
rs6587553 | 1 | 151046704 | 3 prime UTR variant | A/G;T | snv | 0.81 | 1 | ||||
rs459552 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 1 | ||
rs215607 | 7 | 32298725 | missense variant | G/A | snv | 0.79 | 0.77 | 1 | |||
rs560887 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 9 | |
rs3765407 | 1 | 23092881 | missense variant | G/T | snv | 0.75 | 0.75 | 1 | |||
rs12711521 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 1 | |
rs1046956 | 3 | 50185493 | missense variant | T/A;G | snv | 0.74 | 1 | ||||
rs5771118 | 22 | 50275860 | intron variant | T/C | snv | 0.74 | 0.79 | 1 | |||
rs1788799 | 1.000 | 0.080 | 18 | 23544981 | missense variant | C/A;G;T | snv | 4.2E-06; 0.73 | 1 | ||
rs2280843 | 9 | 128822790 | missense variant | A/G | snv | 0.72 | 0.64 | 1 | |||
rs2904880 | 1.000 | 0.040 | 16 | 28933075 | missense variant | C/G | snv | 0.72 | 0.76 | 2 | |
rs1052618 | 3 | 136855659 | missense variant | A/G | snv | 0.72 | 0.68 | 1 | |||
rs645026 | 12 | 69364151 | intron variant | G/A;C | snv | 0.72 | 1 | ||||
rs1045861 | 11 | 90202418 | missense variant | G/T | snv | 0.70 | 0.62 | 1 | |||
rs4851287 | 2 | 100299310 | missense variant | A/G | snv | 0.69 | 0.72 | 1 | |||
rs7126805 | 11 | 828916 | missense variant | G/A;C | snv | 0.67; 1.0E-04 | 1 | ||||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 |