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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
8 | 0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
11 | 0.827 | 0.240 | 16 | 67842794 | missense variant | C/G;T | snv | 1.6E-03 | 6.0E-04 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.240 | 7 | 107675051 | missense variant | T/C | snv | 2.7E-04 | 3.4E-04 | 0.700 | 0 | ||||||
|
11 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 0.700 | 0 | ||||||
|
19 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 0.700 | 0 | ||||||
|
13 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
35 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
8 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
5 | 0.851 | 0.240 | 7 | 117540273 | missense variant | T/A | snv | 1.4E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
13 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 | 0.700 | 0 | ||||||
|
23 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 0.700 | 0 | ||||||
|
34 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-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 | ||||||
|
26 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.160 | 7 | 76058047 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.160 | 5 | 112204453 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
15 | 0.763 | 0.200 | 10 | 58390856 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2006 | |||
|
16 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
16 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.790 | 0.240 | 9 | 137108433 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 |