Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs879255280 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 15 | |||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 13 | |||
rs1126809 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 11 | |
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 | ||
rs80359601 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 8 | ||
rs869025212 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 6 | |||
rs775248597 | 0.851 | 0.120 | 11 | 108229185 | stop gained | C/G;T | snv | 8.1E-06 | 5 | ||
rs778031266 | 0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 | 4 | ||
rs786203714 | 0.925 | 0.200 | 16 | 23635095 | stop gained | A/T | snv | 4 | |||
rs1805007 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 3 | ||
rs104894040 | 0.882 | 0.160 | 7 | 155806509 | missense variant | A/C;G | snv | 2 | |||
rs17710891 | 0.925 | 0.040 | 7 | 129209348 | missense variant | G/A;C | snv | 2.4E-05 | 2 | ||
rs137853214 | 0.925 | 0.040 | 5 | 87349304 | missense variant | G/T | snv | 1 | |||
rs137853216 | 0.925 | 0.040 | 5 | 87349312 | missense variant | A/G | snv | 1 | |||
rs12203592 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 1 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs137853215 | 0.925 | 0.040 | 5 | 87349309 | missense variant | A/G | snv | 1 | |||
rs104894049 | 0.925 | 0.120 | 7 | 155806527 | missense variant | T/A | snv | 1 | |||
rs121918347 | 0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv | 1 | |||
rs121918348 | 0.925 | 0.040 | 7 | 129210997 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 1 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs78378222 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 1 |