Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894002 | 0.790 | 0.320 | 6 | 41161557 | stop gained | G/A | snv | 2.0E-05 | 2.1E-05 | 7 | |
rs201258663 | 0.807 | 0.320 | 6 | 41161457 | missense variant | G/A | snv | 5.6E-05 | 4.9E-05 | 6 | |
rs797044603 | 0.827 | 0.320 | 6 | 41161541 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs121908402 | 0.882 | 0.280 | 6 | 41161277 | missense variant | A/C | snv | 1.2E-05 | 3 | ||
rs104893998 | 0.925 | 0.240 | 6 | 41161421 | stop gained | C/T | snv | 8.0E-06 | 2 | ||
rs386834143 | 0.925 | 0.240 | 6 | 41163043 | stop gained | C/A | snv | 2 | |||
rs104894732 | 0.925 | 0.240 | 19 | 35908227 | start lost | A/G | snv | 2 | |||
rs386834140 | 1.000 | 0.240 | 6 | 41161385 | frameshift variant | C/- | delins | 1 | |||
rs386834141 | 1.000 | 0.240 | 6 | 41161341 | frameshift variant | C/- | del | 1 | |||
rs386834142 | 1.000 | 0.240 | 6 | 41163037 | splice region variant | CCT/- | delins | 1 | |||
rs386834144 | 1.000 | 0.240 | 6 | 41159790 | splice donor variant | A/G | snv | 8.0E-06 | 1 | ||
rs386833839 | 1.000 | 0.240 | 19 | 35907559 | missense variant | C/T | snv | 1 | |||
rs386833840 | 1.000 | 0.240 | 19 | 35907534 | frameshift variant | C/- | del | 1 | |||
rs386833841 | 1.000 | 0.240 | 19 | 35907530 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs386833842 | 1.000 | 0.240 | 19 | 35907232 | stop gained | C/A;T | snv | 8.5E-06 | 1 |