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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 75190556 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 21 | 45528653 | intron variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 4 | 141732931 | 3 prime UTR variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.080 | 1.000 | 8 | 2007 | 2016 | ||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.030 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | Y | 1196852 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.120 | 11 | 75172532 | missense variant | G/A;T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 6 | 108620265 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
11 | 75176120 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 6 | 108682786 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 |