Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1034395178 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 33 | ||
rs1057516033 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 9 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs1057518786 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 5 | ||||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs1057519429 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 15 | |||
rs1057519443 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 7 | |||
rs1057519444 | 0.925 | 0.120 | 22 | 32518208 | missense variant | GG/AA | mnv | 5 | |||
rs1057519521 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 8 | |||
rs1057519566 | 0.851 | 0.160 | 7 | 76063579 | missense variant | C/T | snv | 7 | |||
rs1057519567 | 0.882 | 0.040 | 7 | 76063554 | frameshift variant | G/- | delins | 5 | |||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs1064795559 | 0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv | 29 | |||
rs1131692228 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 5 | |||
rs1131692229 | 0.851 | 0.120 | 2 | 8730956 | frameshift variant | GT/- | delins | 11 | |||
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 9 | |||
rs1135401746 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 7 | |||
rs1135401778 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 20 | |||
rs114638163 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 10 | ||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1425998598 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 19 | ||
rs1554700718 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 59 | |||
rs1555038111 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 37 | |||
rs1555043939 | 0.851 | 0.240 | 11 | 118496323 | frameshift variant | -/G | delins | 9 | |||
rs1555582065 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 13 |