Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs121918460 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 27 | ||
rs113993959 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 19 | ||
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs1553284997 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 17 | |||
rs796051877 | 0.807 | 0.320 | 17 | 80110055 | splice region variant | G/A | snv | 4.0E-06 | 10 | ||
rs281864996 | 0.807 | 0.280 | 12 | 101764363 | frameshift variant | CTTTT/-;CTTTTCTTTT | delins | 2.8E-05 | 7.0E-06 | 10 | |
rs387906309 | 0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 | 10 | |
rs1567705064 | 1.000 | 0.080 | 17 | 42907570 | frameshift variant | ATGGTCACATCTA/- | del | 8 | |||
rs886039794 | 0.851 | 0.480 | 8 | 85109594 | splice acceptor variant | G/C | snv | 8 | |||
rs1555269154 | 0.851 | 0.280 | 12 | 101761307 | frameshift variant | -/CTTTGTGA | delins | 7 | |||
rs1057519466 | 0.925 | 0.160 | 15 | 72346307 | frameshift variant | G/- | del | 7 | |||
rs572115942 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 7 | |
rs768849283 | 0.882 | 0.040 | 10 | 70600517 | missense variant | C/G | snv | 6.8E-05 | 7 | ||
rs1567608853 | 0.925 | 0.160 | 16 | 88646212 | non coding transcript exon variant | G/C | snv | 6 | |||
rs1060499680 | 0.882 | 0.200 | 12 | 101768036 | splice donor variant | C/A;T | snv | 4.0E-06 | 6 | ||
rs1060499681 | 0.882 | 0.200 | 12 | 101764303 | frameshift variant | C/- | del | 6 | |||
rs751953529 | 0.882 | 0.200 | 12 | 101786012 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
rs1554174425 | 0.925 | 0.160 | 6 | 49618113 | missense variant | A/C | snv | 6 | |||
rs1057516674 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 5 | |||
rs878853315 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 5 | |||
rs1060499685 | 0.882 | 0.160 | 12 | 101764547 | frameshift variant | AA/- | delins | 5 | |||
rs1555271865 | 0.925 | 0.160 | 12 | 101786204 | frameshift variant | -/T | delins | 5 | |||
rs886039908 | 0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins | 5 | |||
rs879253740 | 0.882 | 0.240 | 14 | 74493191 | splice donor variant | A/G | snv | 5 |