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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
16 | 0.776 | 0.360 | 13 | 50945445 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 0.700 | 0 | ||||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
6 | 0.807 | 0.120 | 2 | 240797715 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.240 | 22 | 50080391 | missense variant | G/A | snv | 1.3E-04 | 6.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.240 | 15 | 22812252 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.240 | 14 | 50613343 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 1994 | 2002 | |||||
|
5 | 0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.240 | 14 | 50628394 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 8 | 64596707 | missense variant | G/A;T | snv | 5.2E-04; 8.0E-06 | 0.700 | 1.000 | 5 | 2009 | 2014 | ||||
|
3 | 0.882 | 0.200 | 8 | 64604753 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 1998 | 2010 | |||
|
3 | 0.882 | 0.240 | 12 | 57569015 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.160 | 12 | 57569648 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.200 | X | 153869818 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.120 | X | 56565362 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.120 | 2 | 32137172 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 8 | 64615716 | stop gained | A/G;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.240 | 2 | 86282216 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.280 | 16 | 16188907 | missense variant | A/G | snv | 1.2E-04 | 3.6E-04 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.120 | 2 | 201724392 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 2 | 86232624 | splice donor variant | C/T | snv | 0.700 | 0 |