| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 |
|
0.030 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 208248486 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 2 | 216201914 | intron variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
0.820 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.020 | 1.000 | 2 | 2005 | 2013 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2005 | 2013 | |||||||||
|
4 | 105234028 | missense variant | C/G;T | snv | 6.3E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 5 | 177512369 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.040 | 1.000 | 4 | 2003 | 2015 | |||||||
|
0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
6 | 162262719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 |