| 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 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 20 | 41161795 | intron variant | C/T | snv | 4.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 1 | 87773925 | intron variant | G/A | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 |
|
0.710 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.120 | 22 | 28696732 | intron variant | C/T | snv | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 136902178 | non coding transcript exon variant | G/A | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.120 | 14 | 68694457 | non coding transcript exon variant | T/C | snv | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 3 | 156689208 | intron variant | G/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 6 | 3580855 | downstream gene variant | T/A | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 14 | 32706736 | intron variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 22143914 | 5 prime UTR variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 22141722 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | X | 154966714 | intron variant | C/T | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 18 | 27347470 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 7 | 27185939 | non coding transcript exon variant | A/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | X | 154964936 | intron variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 12 | 63871057 | intron variant | G/A | snv | 0.15 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 13 | 93224864 | upstream gene variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 11 | 112153104 | non coding transcript exon variant | C/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.720 | 1.000 | 3 | 2010 | 2016 |