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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 3 | 132522838 | missense variant | C/A;T | snv | 4.1E-06; 1.5E-03 | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 3 | 132467269 | missense variant | G/T | snv | 2.0E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 5 | 168363199 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 8 | 105503826 | intron variant | C/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 20 | 5112983 | missense variant | C/A;T | snv | 6.7E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 12 | 50992234 | missense variant | G/T | snv | 2.2E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 12 | 6528679 | splice region variant | T/C | snv | 0.74 | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 12 | 6526401 | intron variant | A/T | snv | 0.75 | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 20 | 5100921 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 20 | 5109345 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 155235775 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 6 | 161785885 | missense variant | C/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 155235256 | missense variant | C/T | snv | 5.2E-04 | 2.3E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 132492587 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 6 | 161785877 | missense variant | G/A | snv | 4.2E-04 | 4.5E-04 | 0.700 | 1.000 | 4 | 2003 | 2018 | |||
|
4 | 0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 | 0.700 | 1.000 | 4 | 2003 | 2018 | ||||
|
2 | 0.925 | 0.040 | 6 | 161785805 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-04 | 0.700 | 1.000 | 4 | 2003 | 2018 | ||||
|
2 | 0.925 | 0.040 | 19 | 48230930 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 14 | 104773557 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 1 | 20645618 | missense variant | G/A | snv | 9.2E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.040 | 2 | 232747740 | missense variant | A/G | snv | 2.6E-04 | 3.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 53725022 | intron variant | C/A;T | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | X | 121049176 | missense variant | T/G | snv | 2.7E-02 | 3.2E-02 | 0.700 | 0 | ||||||
|
7 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 |