| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.923 | 12 | 2009 | 2018 | ||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.720 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.720 | 1.000 | 2 | 2009 | 2014 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.080 | 1.000 | 8 | 2010 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.080 | 1.000 | 8 | 2010 | 2019 | |||||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.030 | 0.667 | 3 | 2015 | 2018 | |||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.040 | 2 | 208239914 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.040 | 1 | 237833787 | 3 prime UTR variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.040 | 1 | 237833954 | 3 prime UTR variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 14 | 32833676 | 3 prime UTR variant | G/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 4 | 61996533 | intron variant | G/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 5 | 160472115 | intron variant | G/A | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |