Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80338844 | 0.776 | 0.280 | 11 | 112088939 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 10 | |
rs772551056 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 9 | ||
rs80338845 | 0.807 | 0.240 | 11 | 112088971 | missense variant | G/T | snv | 7.0E-06 | 9 | ||
rs587782703 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 8 | ||
rs80338842 | 0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv | 8 | |||
rs587782604 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs876658461 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 7 | |||
rs587776653 | 0.827 | 0.160 | 1 | 161356841 | splice donor variant | G/A;C;T | snv | 8.0E-06 | 7 | ||
rs104894309 | 0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 | 7 | ||
rs398122805 | 0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 | 6 | ||
rs74315366 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 6 | ||
rs104894304 | 0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv | 6 | |||
rs80338843 | 0.827 | 0.240 | 11 | 112087916 | stop gained | C/A;G;T | snv | 4.0E-06 | 6 | ||
rs104894302 | 0.851 | 0.200 | 11 | 112089002 | missense variant | A/G;T | snv | 4.0E-06 | 5 | ||
rs1555187083 | 0.851 | 0.240 | 11 | 112089012 | splice donor variant | G/A;T | snv | 5 | |||
rs104894307 | 0.851 | 0.200 | 11 | 112086908 | start lost | A/G;T | snv | 8.0E-06 | 5 | ||
rs587776649 | 0.851 | 0.240 | 11 | 112087861 | frameshift variant | G/- | del | 5 | |||
rs1050032491 | 0.851 | 0.240 | 11 | 112094832 | stop gained | T/A;C | snv | 7.0E-06 | 4 | ||
rs1131691065 | 0.882 | 0.200 | 11 | 112089011 | stop gained | G/A | snv | 4 | |||
rs1306475361 | 0.851 | 0.240 | 11 | 112088866 | splice acceptor variant | G/T | snv | 4.0E-06 | 4 | ||
rs387906358 | 0.851 | 0.200 | 11 | 112088884 | frameshift variant | TC/- | delins | 4 | |||
rs878854590 | 0.851 | 0.240 | 11 | 112088869 | frameshift variant | G/- | delins | 4 | |||
rs104894305 | 0.851 | 0.240 | 11 | 112087899 | stop gained | C/A | snv | 4 | |||
rs587782210 | 0.882 | 0.200 | 11 | 112087959 | stop gained | C/A | snv | 4 | |||
rs104894306 | 0.882 | 0.200 | 11 | 112087868 | stop gained | C/T | snv | 4 |