Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs121913059 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 16 | |
rs767978562 | 0.790 | 0.320 | 13 | 38851093 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 8 | |
rs758865880 | 0.807 | 0.280 | 2 | 142956235 | stop gained | T/A | snv | 7.2E-05 | 4.9E-05 | 8 | |
rs770642379 | 0.807 | 0.280 | 2 | 143040430 | frameshift variant | TTTAAGC/- | delins | 3.2E-05 | 2.8E-05 | 8 | |
rs1563322318 | 0.925 | 0.120 | 8 | 9018335 | frameshift variant | A/- | delins | 4 |