| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.830 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.810 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv |
|
0.820 | 1.000 | 4 | 2009 | 2011 | |||||||||
|
0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 |
|
0.040 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.040 | 1.000 | 4 | 2014 | 2020 | |||||||||
|
1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 3 | 2010 | 2015 | |||||||||
|
0.807 | 0.160 | 17 | 80182790 | missense variant | G/A | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
0.827 | 0.160 | 6 | 52187159 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.710 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
1.000 | 0.040 | 6 | 31142614 | missense variant | G/A;C | snv | 4.0E-06; 0.28 |
|
0.710 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.710 | 1.000 | 2 | 2006 | 2016 | ||||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.882 | 0.080 | 5 | 96803547 | missense variant | C/A;G;T | snv | 0.64; 8.0E-06; 9.1E-04 |
|
0.020 | 0.500 | 2 | 2013 | 2018 | ||||||||
|
0.790 | 0.160 | 17 | 80183976 | missense variant | A/C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.710 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.020 | 0.500 | 2 | 2008 | 2012 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.020 | 0.500 | 2 | 2014 | 2017 | |||||||||
|
0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 8 | 103931366 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 |