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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 15 | 44598738 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
4 | 11 | 68917781 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.040 | 20 | 49374625 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 1.000 | 0.040 | 15 | 42403721 | intron variant | C/G | snv | 3.1E-03; 2.4E-05 | 3.1E-03 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.080 | 9 | 137800985 | splice donor variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.080 | 7 | 76303855 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
7 | 1.000 | 0.080 | 2 | 32098840 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
5 | 1.000 | 0.080 | 15 | 44584299 | missense variant | A/G | snv | 4.8E-05 | 1.0E-04 | 0.700 | 0 | ||||||
|
5 | 1.000 | 0.120 | 11 | 68906163 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 15 | 44657230 | frameshift variant | AT/- | del | 4.9E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.120 | 15 | 42360096 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.120 | 15 | 42410958 | missense variant | G/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.120 | 15 | 42409930 | splice acceptor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
14 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | |||||||
|
27 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.160 | 21 | 46125776 | intron variant | G/A | snv | 1.1E-04 | 7.7E-05 | 0.700 | 0 | ||||||
|
12 | 0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
28 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 |