| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 10 | 31520347 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | X | 123912065 | 3 prime UTR variant | C/T | snv | 0.25 | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | X | 123911791 | 3 prime UTR variant | C/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 16 | 78386878 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 218890134 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 17 | 3572196 | synonymous variant | C/T | snv | 4.6E-02 | 7.5E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 4390219 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
3 | 189869342 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.030 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.520 | 9 | 117702447 | upstream gene variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 21 | 31390097 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 46701027 | intron variant | C/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |