| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||||
|
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 | ||||||||
|
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 | ||||||||
|
0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
11 | 116936627 | intron variant | G/A | snv | 1.1E-02 |
|
0.800 | 1.000 | 3 | 2014 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 19967156 | 3 prime UTR variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19990569 | intergenic variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 3 | 2008 | 2018 |