| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 |
|
0.040 | 1.000 | 4 | 2013 | 2018 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2013 | 2019 | |||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.020 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 106193283 | intron variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
9 | 131127544 | synonymous variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
14 | 24166173 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
X | 71616597 | missense variant | C/G;T | snv | 5.5E-06; 5.7E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 9 | 21367884 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 11 | 102799765 | intron variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.160 | 21 | 44286092 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |