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 | 0.040 | 7 | 106872566 | synonymous variant | C/T | snv | 0.32 | 0.26 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.080 | 4 | 186083346 | missense variant | C/T | snv | 4.1E-04 | 5.2E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 7 | 106868886 | missense variant | C/A;T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 7 | 106884244 | synonymous variant | C/T | snv | 0.12 | 8.5E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 1 | 207321071 | upstream gene variant | T/C | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 8 | 8347928 | intron variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 5435739 | intron variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 1 | 60864031 | intron variant | G/A | snv | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 3 | 187075635 | missense variant | C/A;G;T | snv | 4.0E-06; 6.8E-05; 3.9E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 9 | 117712537 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 |
|
0.040 | 0.750 | 4 | 2014 | 2017 |