Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs752362727 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 22 | ||
rs386834180 | 0.776 | 0.360 | 8 | 93781725 | missense variant | T/C | snv | 2.0E-05 | 4.2E-05 | 8 | |
rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs267607119 | 0.827 | 0.360 | 8 | 93808898 | missense variant | T/C | snv | 4.0E-05 | 8.4E-05 | 5 | |
rs137853108 | 0.851 | 0.320 | 8 | 93765617 | stop gained | A/T | snv | 1.8E-04 | 2.6E-04 | 4 | |
rs202149403 | 0.851 | 0.360 | 8 | 93780633 | missense variant | T/C;G | snv | 8.4E-05 | 4 | ||
rs386834202 | 0.851 | 0.320 | 8 | 93765574 | frameshift variant | AG/- | del | 4.0E-06; 1.9E-04 | 5.6E-05 | 4 | |
rs137853107 | 0.882 | 0.360 | 8 | 93791282 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs386834185 | 0.882 | 0.320 | 8 | 93787843 | splice acceptor variant | G/C;T | snv | 3 | |||
rs199821258 | 0.925 | 0.320 | 8 | 93765648 | splice donor variant | T/G | snv | 5.6E-05 | 2.8E-05 | 2 | |
rs386834182 | 0.925 | 0.360 | 8 | 93786253 | missense variant | G/A | snv | 6.0E-05 | 4.2E-05 | 2 | |
rs386834192 | 0.925 | 0.320 | 8 | 93803685 | splice donor variant | -/T | delins | 1.4E-05 | 2 | ||
rs386834205 | 0.925 | 0.320 | 8 | 93772612 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs137853106 | 1.000 | 0.280 | 8 | 93782456 | missense variant | A/C | snv | 1 | |||
rs386834181 | 1.000 | 0.280 | 8 | 93781744 | splice donor variant | G/- | delins | 1 | |||
rs386834183 | 1.000 | 0.280 | 8 | 93786256 | missense variant | G/A;T | snv | 8.0E-06 | 1 | ||
rs386834184 | 1.000 | 0.280 | 8 | 93786270 | missense variant | G/C;T | snv | 4.0E-06 | 1 | ||
rs386834186 | 1.000 | 0.280 | 8 | 93791280 | frameshift variant | AT/- | delins | 1 | |||
rs386834187 | 1.000 | 0.280 | 8 | 93791320 | splice donor variant | G/A | snv | 1 | |||
rs386834188 | 1.000 | 0.280 | 8 | 93755075 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs386834189 | 1.000 | 0.280 | 8 | 93797372 | missense variant | T/C | snv | 1 | |||
rs386834190 | 1.000 | 0.280 | 8 | 93755776 | splice acceptor variant | A/- | del | 9.6E-05 | 1 | ||
rs386834191 | 1.000 | 0.280 | 8 | 93803662 | frameshift variant | T/- | delins | 1 | |||
rs386834193 | 1.000 | 0.280 | 8 | 93804796 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 |