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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | |||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
18 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 15 | 28211095 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.120 | 2 | 195787135 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | X | 34656995 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 10 | 32019912 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 3 | 6861849 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 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 | |||||||
|
12 | 0.827 | 0.240 | 19 | 49835897 | frameshift variant | C/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
34 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 |