| 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 | 0.120 | 7 | 100103553 | intron variant | G/A | snv | 0.56 | 0.46 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 185409746 | regulatory region variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 18 | 656020 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 18 | 58449558 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 16 | 78986883 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.120 | 17 | 41869011 | intron variant | G/A;C;T | snv | 4.2E-06; 0.78 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 5 | 52944980 | missense variant | A/G | snv | 5.5E-02 | 8.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 135564539 | intergenic variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.724 | 0.280 | 17 | 7674232 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 7 | 20158817 | stop gained | G/A;T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 17 | 58279379 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 |
|
0.060 | 1.000 | 6 | 2011 | 2020 | ||||||||
|
0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 16 | 56652118 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.160 | 22 | 32800707 | intron variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.807 | 0.120 | 6 | 149287738 | intron variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 3507824 | missense variant | G/A | snv | 4.7E-02 | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 1 | 6151123 | missense variant | G/A;C | snv | 0.37; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 156898551 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 151974478 | intron variant | G/C | snv | 5.1E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |