| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.240 | 3 | 10149796 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2002 | 2014 | |||||||||
|
0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 |
|
0.710 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 1 | 11157172 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
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 | 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 | |||||||
|
0.925 | 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 | |||||||
|
0.925 | 0.120 | 7 | 37907501 | missense variant | C/T | snv | 0.20 | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 1 | 109930334 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 8 | 23019226 | 3 prime UTR variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 5 | 132678417 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 6 | 34085889 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 9 | 113391072 | intron variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 9 | 134443675 | downstream gene variant | G/A | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 109909068 | upstream gene variant | T/C | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 3 | 169764347 | downstream gene variant | G/A | snv | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |