| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 |
|
0.840 | 0.833 | 4 | 2012 | 2019 | ||||||||
|
0.827 | 0.120 | 11 | 69424973 | upstream gene variant | G/A;C | snv |
|
0.830 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 |
|
0.830 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 |
|
0.820 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 116699228 | synonymous variant | G/A | snv | 3.3E-02 | 3.3E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 17 | 17228023 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 12 | 26377610 | intron variant | T/A;C | snv | 0.40 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv |
|
0.810 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.925 | 0.120 | 3 | 120421014 | intron variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 2 | 46332637 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 21 | 31266532 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.120 | 19 | 38287929 | missense variant | C/T | snv | 1.6E-03 | 1.9E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.120 | 9 | 79515946 | non coding transcript exon variant | T/C | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 69936725 | start lost | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 3 | 148697390 | upstream gene variant | T/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 8 | 90083245 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 7 | 37907501 | missense variant | C/T | snv | 0.20 | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 11 | 69639167 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 1 | 109930334 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | 4 | 54285873 | synonymous variant | C/A;T | snv | 4.0E-06; 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |