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 | |||
rs137854889 | 0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins | 31 | |||
rs543860009 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 33 | |||
rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs1554199368 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 12 | |||
rs1554333853 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 54 | |||
rs1554389088 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 27 | |||
rs180177039 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 12 | |||
rs1563221666 | 0.882 | 0.120 | 8 | 22162694 | missense variant | C/T | snv | 14 | |||
rs864321670 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 24 | |||
rs1555038111 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 37 | |||
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs141322087 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 13 | |
rs1344172059 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 12 | ||
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs1421405659 | 0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv | 13 | |||
rs1273330603 | 1.000 | 0.080 | 13 | 20189094 | missense variant | A/G | snv | 2.8E-05 | 3 | ||
rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 | |
rs1555386022 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 38 | |||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs1232880706 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 36 | |||
rs200661329 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 48 | ||
rs369160589 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 35 | |
rs1009298200 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 34 |