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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.080 | 1.000 | 8 | 2003 | 2018 | ||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 5 | 2011 | 2019 | |||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2019 | |||||||||
|
11 | 116784884 | missense variant | G/A;C | snv | 6.6E-02; 8.0E-06 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.720 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
11 | 116790406 | stop gained | G/A;C | snv | 4.1E-05; 8.1E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.720 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv |
|
0.710 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.080 | 11 | 116790814 | stop gained | G/A | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 11 | 116790814 | stop gained | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |