Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs1554691658 | 0.807 | 0.240 | 9 | 95459653 | frameshift variant | C/GGGTCCACAACATCT | delins | 11 | |||
rs863225055 | 0.925 | 0.160 | 9 | 95476760 | frameshift variant | AAAAGGGATTC/- | delins | 3 | |||
rs1554708787 | 1.000 | 9 | 95506567 | stop gained | C/T | snv | 3 | ||||
rs781768965 | 1.000 | 9 | 95508175 | stop gained | C/A;G | snv | 4.0E-06 | 3 | |||
rs1060502292 | 1.000 | 0.160 | 9 | 95468803 | frameshift variant | AG/- | delins | 2 | |||
rs766313615 | 1.000 | 0.160 | 9 | 95467368 | stop gained | G/A;C;T | snv | 8.0E-06 | 2 | ||
rs1564032829 | 0.925 | 0.160 | 9 | 95468757 | frameshift variant | T/- | delins | 2 | |||
rs1131690986 | 1.000 | 0.160 | 9 | 95485866 | stop gained | G/A | snv | 2 | |||
rs1060502273 | 1.000 | 0.160 | 9 | 95453562 | frameshift variant | AT/- | del | 2 | |||
rs1131690969 | 1.000 | 0.160 | 9 | 95480525 | frameshift variant | CTTT/- | delins | 2 | |||
rs1131690987 | 1.000 | 0.160 | 9 | 95480449 | frameshift variant | A/- | del | 2 | |||
rs1060502281 | 1.000 | 0.160 | 9 | 95481954 | stop gained | G/T | snv | 2 | |||
rs1064793921 | 1.000 | 0.160 | 9 | 95476161 | splice acceptor variant | T/C;G | snv | 2 | |||
rs878853849 | 1.000 | 0.160 | 9 | 95506601 | splice acceptor variant | T/C;G | snv | 2 | |||
rs1060502301 | 1.000 | 0.160 | 9 | 95458029 | stop gained | C/T | snv | 2 | |||
rs863225054 | 1.000 | 0.160 | 9 | 95477548 | missense variant | T/C | snv | 2 | |||
rs147067171 | 0.925 | 0.080 | 9 | 95447309 | missense variant | T/C | snv | 5.5E-04 | 5.0E-04 | 2 | |
rs863225467 | 1.000 | 0.160 | 9 | 95467134 | frameshift variant | AGTA/CT | delins | 2 | |||
rs1060502274 | 1.000 | 0.160 | 9 | 95469119 | stop gained | G/A | snv | 1 | |||
rs1564031259 | 1.000 | 0.160 | 9 | 95467400 | splice acceptor variant | AAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGACCCCAG/- | delins | 1 | |||
rs1554692291 | 1.000 | 0.160 | 9 | 95461940 | stop gained | G/C | snv | 1 | |||
rs1564035949 | 1.000 | 0.160 | 9 | 95469896 | frameshift variant | A/- | delins | 1 | |||
rs786204167 | 1.000 | 0.160 | 9 | 95467181 | missense variant | A/T | snv | 1 | |||
rs1554695039 | 1.000 | 0.160 | 9 | 95468939 | stop gained | G/A | snv | 1 |