| 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 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 9 | 4290541 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 164497436 | missense variant | T/C | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.827 | 0.160 | 12 | 121232997 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 7 | 44151050 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 84822934 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 161802188 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2014 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 63150429 | missense variant | A/C;G;T | snv | 0.60; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |