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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 |
|
0.020 | 0.500 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.080 | 14 | 36663043 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.200 | 17 | 28529157 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 10 | 52313141 | intron variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 1 | 236482309 | missense variant | C/T | snv | 2.1E-02 | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 2 | 218890118 | missense variant | C/A;T | snv | 4.0E-06; 1.9E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 1 | 240493497 | intron variant | G/A | snv | 0.21 | 0.17 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 4 | 1805414 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 18 | 3457392 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.080 | 14 | 53952099 | missense variant | C/A;G | snv | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 4 | 5632031 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 20 | 6779333 | 3 prime UTR variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 1 | 209790735 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |