Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553284997 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 17 | |||
rs758361736 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 16 | |
rs1554196416 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 15 | |||
rs1567368243 | 0.882 | 0.040 | 15 | 75411651 | frameshift variant | -/T | delins | 9 | |||
rs1563183492 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 32 | |||
rs796052686 | 0.776 | 0.280 | 7 | 66638394 | missense variant | G/A | snv | 1.2E-05 | 22 | ||
rs387907260 | 0.776 | 0.280 | 7 | 66633410 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 22 | |
rs1557036768 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 44 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs1232880706 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 36 | |||
rs1566913974 | 0.807 | 0.200 | 15 | 48505029 | missense variant | A/C | snv | 8 | |||
rs1566911709 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 15 | |||
rs1555395001 | 0.807 | 0.200 | 15 | 48434600 | missense variant | A/G | snv | 8 | |||
rs1555154946 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 16 | |||
rs779027563 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 58 | |
rs375761361 | 0.827 | 0.240 | 22 | 41527949 | missense variant | C/G;T | snv | 4.0E-06; 3.6E-05 | 9 | ||
rs864309499 | 0.827 | 0.240 | 22 | 41526319 | missense variant | C/T | snv | 4.0E-06 | 9 | ||
rs1555954284 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 24 | |||
rs875989803 | 0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv | 15 | |||
rs137854889 | 0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins | 31 | |||
rs137852813 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 11 | |||
rs267607079 | 0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv | 13 | |||
rs1060503383 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 14 | |||
rs1554121443 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 29 |