| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | X | 51467205 | downstream gene variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
0.882 | 0.160 | 6 | 160160342 | downstream gene variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.730 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
0.925 | 0.080 | 8 | 23676505 | downstream gene variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 23633678 | downstream gene variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 87085650 | upstream gene variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.667 | 1 | 2013 | 2018 | |||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.800 | 0.923 | 1 | 2008 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 32224554 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 17 | 37746322 | upstream gene variant | G/A;T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||||
|
0.925 | 0.080 | 10 | 46063201 | upstream gene variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
1.000 | 0.080 | 5 | 75593902 | stop lost | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 22 | 43104206 | TF binding site variant | G/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 13 | 32340176 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||
|
0.925 | 0.080 | 22 | 40040969 | 3 prime UTR variant | G/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 241443449 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.720 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
1.000 | 0.080 | 5 | 140550292 | 3 prime UTR variant | T/G | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |