Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553794464 | 1.000 | 3 | 114350821 | frameshift variant | -/C | delins | 2 | ||||
rs34927195 | 1.000 | X | 71147958 | frameshift variant | -/G | delins | 2 | ||||
rs1555186842 | 1.000 | 12 | 49030285 | frameshift variant | -/GTGCCCTT | delins | 2 | ||||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1556235119 | 1.000 | X | 119574712 | start lost | A/G | snv | 3 | ||||
rs587777618 | 0.925 | 12 | 4299977 | missense variant | A/G | snv | 4 | ||||
rs869025411 | 0.925 | 0.160 | 15 | 48432911 | missense variant | A/G | snv | 4 | |||
rs28940579 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 4 | ||
rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
rs1553549717 | 1.000 | 2 | 166051871 | frameshift variant | C/- | delins | 2 | ||||
rs1556039406 | 1.000 | X | 17727350 | frameshift variant | C/- | delins | 2 | ||||
rs762904815 | 1.000 | 3 | 9744394 | frameshift variant | C/-;CC;CCC | delins | 3 | ||||
rs761532715 | 1.000 | 2 | 42053250 | stop gained | C/A | snv | 3 | ||||
rs781768965 | 1.000 | 9 | 95508175 | stop gained | C/A;G | snv | 4.0E-06 | 3 | |||
rs1554499814 | 1.000 | 7 | 148829806 | missense variant | C/G | snv | 2 | ||||
rs1554062562 | 1.000 | 5 | 14359442 | stop gained | C/T | snv | 3 | ||||
rs1554708787 | 1.000 | 9 | 95506567 | stop gained | C/T | snv | 3 | ||||
rs1555179320 | 0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv | 4 | |||
rs368820286 | 1.000 | 5 | 126549924 | splice region variant | C/T | snv | 2.0E-05 | 1.4E-05 | 3 | ||
rs1554898088 | 1.000 | 10 | 87933066 | frameshift variant | CC/-;C | delins | 2 | ||||
rs1555565243 | 1.000 | 17 | 17794617 | frameshift variant | CT/- | delins | 3 | ||||
rs1555850868 | 1.000 | 20 | 63407149 | frameshift variant | G/- | delins | 2 | ||||
rs774152851 | 1.000 | 14 | 21394188 | frameshift variant | G/-;GG | delins | 2 | ||||
rs113001196 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 5 | |||
rs1553156053 | 1.000 | 1 | 42929652 | stop gained | G/A | snv | 3 |