Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908425 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 14 | ||
rs1569309484 | 0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv | 13 | |||
rs753317536 | 0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 12 | ||
rs1135402761 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 11 | |||
rs397515789 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 10 | |||
rs431905509 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 8 | ||
rs1057518681 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 7 | |||
rs1553538917 | 0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv | 7 | |||
rs1555398673 | 0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv | 7 | |||
rs104894578 | 0.807 | 0.280 | 17 | 70175691 | missense variant | C/T | snv | 6 | |||
rs1057519381 | 0.851 | 0.240 | X | 71124276 | missense variant | G/A | snv | 6 | |||
rs730882245 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 6 | |||
rs1481733213 | 0.851 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv | 5 | |||
rs1553761113 | 0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv | 5 | |||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs886043994 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 21 | |||
rs1566785444 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 20 | |||
rs864309487 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 20 | |||
rs1555565774 | 0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins | 16 | |||
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs1563686762 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 16 | |||
rs61752129 | 0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins | 14 | |||
rs1553370918 | 0.851 | 0.360 | 2 | 15945602 | frameshift variant | TG/- | delins | 6 |