Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113001196 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 5 | |||
rs121918490 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 5 | |||
rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
rs1553156053 | 1.000 | 1 | 42929652 | stop gained | G/A | snv | 3 | ||||
rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
rs1553283037 | 1.000 | 1 | 244860382 | missense variant | T/C | snv | 2 | ||||
rs1553549717 | 1.000 | 2 | 166051871 | frameshift variant | C/- | delins | 2 | ||||
rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
rs1553794464 | 1.000 | 3 | 114350821 | frameshift variant | -/C | delins | 2 | ||||
rs1554062562 | 1.000 | 5 | 14359442 | stop gained | C/T | snv | 3 | ||||
rs1554499814 | 1.000 | 7 | 148829806 | missense variant | C/G | snv | 2 | ||||
rs1554708787 | 1.000 | 9 | 95506567 | stop gained | C/T | snv | 3 | ||||
rs1554898088 | 1.000 | 10 | 87933066 | frameshift variant | CC/-;C | delins | 2 | ||||
rs1554944527 | 1.000 | 11 | 687999 | stop gained | G/T | snv | 3 | ||||
rs1555100954 | 1.000 | 11 | 71118963 | stop gained | G/A | snv | 2 | ||||
rs1555179320 | 0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv | 4 | |||
rs1555186842 | 1.000 | 12 | 49030285 | frameshift variant | -/GTGCCCTT | delins | 2 | ||||
rs1555244216 | 1.000 | 12 | 115987290 | splice acceptor variant | T/C | snv | 2 | ||||
rs1555440555 | 1.000 | 15 | 92953386 | missense variant | T/C | snv | 2 | ||||
rs1555565243 | 1.000 | 17 | 17794617 | frameshift variant | CT/- | delins | 3 | ||||
rs1555850868 | 1.000 | 20 | 63407149 | frameshift variant | G/- | delins | 2 | ||||
rs1555891562 | 1.000 | 20 | 58909707 | missense variant | G/A | snv | 3 | ||||
rs1555950665 | 1.000 | X | 41334255 | start lost | G/C | snv | 4 |