| 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 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
0.830 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
4 | 154580036 | downstream gene variant | -/CA | delins | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 169165889 | intron variant | A/C | snv | 5.5E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169508336 | downstream gene variant | A/C | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
3 | 18424258 | 5 prime UTR variant | A/C | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 8800409 | missense variant | A/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 186464194 | intron variant | A/C | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 119612310 | intron variant | A/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 186302429 | intron variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
19 | 33405526 | intron variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 133259081 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 133258308 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 133269992 | intron variant | A/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 169382306 | intron variant | A/C;G | snv | 5.9E-03; 6.2E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
3 | 39195984 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 186283783 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 54325905 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 169511938 | downstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.903 | 31 | 1997 | 2015 | |||||||
|
0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 |
|
0.720 | 0.750 | 4 | 2015 | 2020 | |||||||
|
0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 |
|
0.030 | 0.667 | 3 | 2003 | 2013 | |||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 |