| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.030 | 0.667 | 3 | 2009 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 24342967 | missense variant | C/T | snv | 2.3E-02 | 2.3E-02 |
|
0.030 | 0.667 | 3 | 2016 | 2018 | |||||||
|
0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 1998 | 2002 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2012 | 2013 | |||||||
|
0.807 | 0.200 | 16 | 84838445 | 5 prime UTR variant | G/A;C | snv | 8.6E-06; 0.67 |
|
0.020 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2002 | 2013 | ||||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 2 | 179745354 | intron variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 2 | 70450307 | 3 prime UTR variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.200 | 14 | 105124634 | downstream gene variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.320 | 12 | 57244322 | missense variant | C/G | snv | 9.1E-05 | 3.8E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.200 | 2 | 45006255 | missense variant | C/T | snv | 1.1E-04 | 4.0E-04 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.827 | 0.240 | 14 | 36519251 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 2 | 74534412 | missense variant | T/A | snv | 8.2E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 4 | 109576918 | intron variant | C/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 2 | 218889997 | synonymous variant | C/T | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.280 | 1 | 209795339 | synonymous variant | C/A;T | snv | 0.41; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 6 | 15487551 | intron variant | C/A;G;T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |