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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 1 | 27548302 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
25 | 0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 17 | 50571953 | inframe deletion | TTC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 7 | 44220165 | missense variant | C/A;G;T | snv | 2.6E-04; 5.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.240 | X | 41553782 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1989 | 2017 | |||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 12 | 31089147 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
24 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 14 | 102002546 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.200 | 14 | 102039416 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.240 | 14 | 28768345 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 19 | 49818457 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.160 | 9 | 137156676 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 15 | 28211095 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.320 | X | 53534144 | missense variant | C/G;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.240 | X | 53534615 | missense variant | C/G | snv | 0.700 | 0 |