| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
16 | 67888439 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
5 | 75321018 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
5 | 173227744 | upstream gene variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 20973240 | intergenic variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.120 | 2 | 27328100 | synonymous variant | A/G | snv | 0.42 | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
19 | 19612406 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
8 | 47824663 | intron variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 47285034 | missense variant | G/A;C | snv | 0.26; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
5 | 75600973 | 3 prime UTR variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
15 | 58507555 | intron variant | A/G | snv | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58520578 | intron variant | C/T | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
4 | 148230877 | intron variant | C/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 8 | 19966452 | 3 prime UTR variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
12 | 109532300 | intron variant | G/A | snv | 9.1E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 62606594 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
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 | ||||||||||
|
11 | 48264704 | missense variant | C/T | snv | 0.52 | 0.46 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
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 |