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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 19 | 44899792 | intron variant | TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | delins |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 80416472 | intron variant | G/A | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 9 | 76036575 | intron variant | A/G | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 11 | 27673917 | intron variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 39135911 | intron variant | C/T | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 117856347 | intron variant | T/G | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 27736075 | intron variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 44899959 | intron variant | C/G;T | snv | 2.9E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 15 | 72259371 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 12 | 128054737 | intron variant | C/G;T | snv | 1.9E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 64979216 | intron variant | C/T | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 129129840 | intron variant | C/A | snv | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 106390428 | intron variant | C/T | snv | 8.4E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.240 | 14 | 64280452 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 22 | 19401286 | intron variant | C/A | snv | 6.2E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 41000929 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 16 | 88972472 | intron variant | G/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |