| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 12 | 6334099 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.240 | 12 | 6333823 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.200 | 12 | 6333490 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 21 | 44289685 | synonymous variant | C/G;T | snv | 2.0E-05; 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 19 | 18388612 | missense variant | C/G;T | snv | 0.24; 9.1E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.360 | 3 | 186857603 | 3 prime UTR variant | G/A;C | snv | 0.10 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.200 | 12 | 8138610 | intron variant | C/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.200 | 12 | 8533837 | 3 prime UTR variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 9 | 6246144 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 10 | 72204485 | stop gained | G/C | snv | 4.0E-02 | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 16 | 11243864 | downstream gene variant | G/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 1 | 236537507 | missense variant | T/A | snv | 0.61 | 0.61 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |