| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 19970337 | downstream gene variant | C/A | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
8 | 125483576 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2019 | |||||||||||
|
1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 19 | 44879780 | intron variant | A/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2019 | |||||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 116755542 | intron variant | G/A | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 20976028 | intergenic variant | G/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 27592643 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
7 | 72664689 | intron variant | C/T | snv | 1.8E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||||
|
11 | 116936627 | intron variant | G/A | snv | 1.1E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 19967156 | 3 prime UTR variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
19 | 19551411 | downstream gene variant | C/T | snv | 6.3E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2018 |