| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||
|
11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 4 | 2018 | 2019 | ||||||||||
|
8 | 125470379 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2017 | 2019 | |||||||||||
|
0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
8 | 19961928 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.800 | 1.000 | 4 | 2007 | 2019 | |||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
11 | 117204850 | 3 prime UTR variant | C/T | snv | 5.2E-02 |
|
0.700 | 1.000 | 4 | 2011 | 2019 | ||||||||||
|
15 | 43528519 | missense variant | C/T | snv | 2.2E-02 | 2.0E-02 |
|
0.700 | 1.000 | 4 | 2014 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 116783719 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
1.000 | 0.080 | 5 | 56565959 | intron variant | C/T | snv | 0.20 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
8 | 125483576 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2019 |