| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 3 | 41234286 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.040 | 3 | 41239897 | 3 prime UTR variant | T/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 3 | 41239336 | synonymous variant | C/T | snv | 3.2E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.807 | 0.240 | 3 | 41200847 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.080 | 3 | 41225746 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 41225816 | synonymous variant | G/A | snv | 3.2E-05 | 4.9E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.851 | 0.080 | 3 | 41225746 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 41220953 | 5 prime UTR variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 41225436 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |