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 | ||||||||
|
5 | 0.925 | 0.200 | 13 | 101089846 | splice region variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | |||||
|
6 | 0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.160 | X | 123634002 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 9 | 127663344 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 9 | 137156676 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 154031211 | missense variant | C/G;T | snv | 2.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 18650466 | stop gained | C/T | snv | 2.0E-04 | 6.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.160 | 16 | 2085323 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209918616 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209967586 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 1 | 210920032 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 1 | 27548302 | stop gained | G/A;C | snv | 0.700 | 0 |