Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 1 | 213242186 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 0.120 | 2 | 195787135 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.360 | 2 | 231737190 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.360 | 2 | 135164629 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 3 | 6861849 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
11 | 0.882 | 0.160 | 3 | 49099606 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.160 | 3 | 49100222 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
34 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
34 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | |||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |