| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.360 | 16 | 13948101 | synonymous variant | T/C | snv | 0.27 | 0.25 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 2 | 113063237 | 3 prime UTR variant | C/G | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 113062899 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 2 | 113063003 | 3 prime UTR variant | C/A | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 113063095 | 3 prime UTR variant | A/G | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 2 | 102178143 | 3 prime UTR variant | A/G | snv | 0.12 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.120 | 15 | 78617197 | intron variant | G/T | snv | 0.61 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 102396972 | 3 prime UTR variant | C/A | snv | 3.7E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 19943391 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.120 | 1 | 24964519 | missense variant | A/T | snv | 0.56 | 0.50 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.120 | 15 | 78571130 | intron variant | T/C | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 14 | 77326894 | missense variant | G/A | snv | 7.0E-02 | 7.0E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 2 | 113063623 | 3 prime UTR variant | T/C | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 |