| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 6 | 1610780 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.200 | 16 | 53873837 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
1.000 | 0.200 | 16 | 53873855 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.200 | 16 | 53873846 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
19 | 34377533 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.240 | 3 | 57199901 | missense variant | C/G | snv | 2.8E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 2 | 148947018 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.807 | 0.280 | 14 | 74555629 | stop gained | G/A;T | snv | 2.1E-05; 4.2E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 226225766 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 11 | 102955390 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.030 | 1.000 | 3 | 2017 | 2018 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 14 | 1999 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 1.000 | 7 | 2004 | 2019 | |||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
9 | 136500595 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
9 | 136514670 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
2 | 19353152 | synonymous variant | C/A;T | snv | 1.6E-04; 5.5E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |