| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 6 | 80038006 | missense variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 11 | 8436118 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 17 | 28735342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 19 | 1220490 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.200 | 9 | 21974760 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 9 | 21971112 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.030 | 1.000 | 3 | 2007 | 2016 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.240 | 12 | 55967046 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.280 | 16 | 1079872 | missense variant | C/T | snv | 0.54 | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.120 | 4 | 121154648 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.240 | 16 | 1079010 | missense variant | C/A | snv | 3.7E-02 | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 16 | 55484060 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |