| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.827 | 0.080 | 21 | 36074727 | intron variant | T/C | snv | 0.63 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 21 | 36071595 | intron variant | T/C | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv |
|
0.020 | 0.500 | 2 | 2006 | 2008 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 0.500 | 2 | 2014 | 2018 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.100 | 0.941 | 34 | 2005 | 2020 | |||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.100 | 0.950 | 20 | 2006 | 2019 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 20 | 2006 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 20 | 2006 | 2019 | |||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.080 | 1.000 | 8 | 2009 | 2016 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.080 | 1.000 | 8 | 2007 | 2016 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.070 | 1.000 | 7 | 2012 | 2020 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 2006 | 2019 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.040 | 1.000 | 4 | 2016 | 2018 | |||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.040 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2016 |