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 | 0.776 | 0.120 | 2 | 38075207 | missense variant | C/G;T | snv | 5.0E-06; 3.2E-04 | 0.060 | 0.833 | 6 | 2002 | 2019 | ||||
|
10 | 0.763 | 0.120 | 2 | 38071251 | missense variant | C/T | snv | 5.8E-03 | 1.7E-03 | 0.030 | 1.000 | 3 | 2003 | 2015 | |||
|
6 | 0.807 | 0.120 | 1 | 171652468 | missense variant | C/A | snv | 9.8E-04 | 1.3E-04 | 0.020 | 1.000 | 2 | 2005 | 2005 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.120 | 2 | 38071234 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.120 | 2 | 38075219 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
6 | 0.807 | 0.240 | 11 | 31794079 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.280 | 14 | 74555629 | stop gained | G/A;T | snv | 2.1E-05; 4.2E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 2 | 38074527 | missense variant | C/G;T | snv | 4.3E-06; 8.6E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 2 | 215428270 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
7 | 0.827 | 0.200 | 2 | 38076389 | non coding transcript exon variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 14 | 74603790 | intron variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 2 | 38071195 | missense variant | C/G;T | snv | 2.9E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 2 | 38071185 | missense variant | C/T | snv | 9.2E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.160 | 2 | 38074704 | missense variant | C/T | snv | 1.1E-02 | 5.7E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 14 | 74552299 | synonymous variant | C/T | snv | 6.0E-02 | 6.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 2 | 38074872 | stop gained | C/A;T | snv | 6.9E-06; 6.9E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 2 | 38071264 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.790 | 0.120 | 2 | 38075218 | stop gained | C/G;T | snv | 1.7E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.200 | 17 | 50197057 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.200 | 17 | 50190861 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 1 | 171638607 | frameshift variant | TC/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 2 | 38075148 | missense variant | A/T | snv | 3.6E-03 | 3.6E-03 | 0.010 | < 0.001 | 1 | 2019 | 2019 |