Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13000344 | 0.925 | 0.040 | 2 | 63062599 | downstream gene variant | T/G | snv | 0.11 | 2 | ||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 34 | ||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs6994992 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 13 | |||
rs344781 | 0.807 | 0.200 | 19 | 43670636 | upstream gene variant | C/T | snv | 0.80 | 7 | ||
rs4446909 | 0.925 | 0.040 | Y | 1614890 | upstream gene variant | G/A | snv | 2 | |||
rs7294536 | 0.925 | 0.040 | 12 | 63154312 | upstream gene variant | T/C | snv | 0.26 | 2 | ||
rs2317385 | 1.000 | 0.040 | 17 | 47252316 | upstream gene variant | G/A | snv | 0.23 | 1 | ||
rs55827077 | 1.000 | 0.040 | 17 | 47253717 | upstream gene variant | G/C | snv | 0.23 | 1 | ||
rs5989681 | 1.000 | 0.040 | Y | 1614999 | upstream gene variant | G/A;C | snv | 1 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs12539160 | 1.000 | 0.040 | 7 | 73606109 | splice region variant | C/A;T | snv | 2.8E-02 | 3.0E-02 | 1 | |
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 | |||
rs1396313317 | 1.000 | 0.040 | 7 | 147562137 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs1561824498 | 1.000 | 0.040 | 5 | 88752044 | splice acceptor variant | C/A | snv | 1 | |||
rs878853161 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 7 | |||
rs762292772 | 0.882 | 0.160 | 22 | 50721505 | frameshift variant | G/-;GG | delins | 4 | |||
rs1565532385 | 0.925 | 0.080 | 11 | 118374964 | frameshift variant | CA/- | del | 3 | |||
rs1555910143 | 0.925 | 0.120 | 22 | 50721257 | frameshift variant | CT/- | del | 2 | |||
rs1567533189 | 0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del | 2 | |||
rs1565527302 | 1.000 | 0.040 | 11 | 70485988 | frameshift variant | TG/- | del | 1 | |||
rs1569305431 | 1.000 | 0.040 | X | 53254702 | frameshift variant | G/- | delins | 1 | |||
rs724159978 | 1.000 | 0.040 | 17 | 30998906 | frameshift variant | G/- | delins | 1 |