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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.050 | 0.800 | 5 | 2006 | 2013 | |||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.040 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.240 | 20 | 40642176 | regulatory region variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 8 | 38426158 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.240 | 8 | 38414569 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.120 | 10 | 101770499 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.280 | 10 | 120865109 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.280 | 9 | 137453808 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.280 | 7 | 84014246 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 20 | 40639876 | regulatory region variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.120 | X | 11298622 | missense variant | C/A;T | snv | 1.1E-05; 0.19 |
|
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 | 2010 | 2010 | |||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 17 | 56695877 | intergenic variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.240 | 8 | 38414173 | missense variant | G/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.851 | 0.240 | 8 | 38414166 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 9 | 121365057 | intron variant | C/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | X | 80024158 | missense variant | G/A;T | snv | 5.5E-06; 8.2E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.200 | 9 | 97851858 | intron variant | T/C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.200 | 17 | 65553370 | intron variant | A/C;G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |