| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 11 | 47582436 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 19 | 1391006 | missense variant | G/A | snv | 5.6E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
5 | 0.851 | 0.120 | X | 119873312 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.851 | 0.120 | 11 | 34995002 | stop gained | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.200 | 5 | 42699892 | missense variant | G/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
2 | 0.925 | 0.200 | 11 | 78469304 | stop gained | -/T | delins | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
8 | 0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.120 | 3 | 119517281 | stop gained | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 161210599 | missense variant | T/C | snv | 3.5E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.160 | MT | 11778 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.160 | 11 | 47582140 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 12 | 123256876 | frameshift variant | G/- | del | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.200 | 11 | 78469304 | stop gained | A/C;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 227702299 | stop gained | G/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 9 | 133352593 | missense variant | C/A;G | snv | 4.0E-06; 1.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 20 | 13808873 | missense variant | G/T | snv | 4.0E-06; 4.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.280 | 19 | 5692127 | missense variant | C/T | snv | 1.6E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.280 | 19 | 5694510 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.200 | 11 | 78436786 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.280 | 19 | 5696750 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 2 | 206144934 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 206144019 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 9 | 128325849 | missense variant | G/A;C | snv | 1.2E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |