| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 3 | 105658671 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 105720182 | synonymous variant | G/A | snv | 0.22 | 0.21 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 10680713 | synonymous variant | G/A | snv | 4.6E-04 | 5.8E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.732 | 0.400 | 9 | 107322047 | missense variant | C/T | snv | 0.20 | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 9 | 107322086 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 108225414 | 5 prime UTR variant | A/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 11 | 108334154 | intron variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 108364109 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.080 | 9 | 108884801 | intron variant | T/C | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 12 | 109568774 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 109745136 | intron variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 109801730 | intron variant | T/C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 109988662 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 4 | 110549757 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 111790494 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.120 | 11 | 112152125 | intron variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |