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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 3 | 38575424 | missense variant | G/A | snv | 1.4E-04 | 7.7E-05 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
2 | 0.925 | 0.120 | 8 | 11708467 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.851 | 0.120 | 11 | 2778003 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
12 | 0.742 | 0.200 | 7 | 151576412 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.200 | 2 | 219421532 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 19 | 49188641 | missense variant | G/A | snv | 5.1E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 7 | 150951514 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.120 | 7 | 150951512 | missense variant | G/A;C;T | snv | 9.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.120 | 1 | 40818164 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.851 | 0.080 | 12 | 114357638 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.280 | 1 | 156137207 | missense variant | C/A;G;T | snv | 9.3E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.851 | 0.120 | 3 | 38606058 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 15 | 73322804 | missense variant | C/A;T | snv | 6.6E-06; 2.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 5 | 173233109 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 8 | 11758294 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |