| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.020 | 0.500 | 2 | 2010 | 2014 | |||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2008 | 2014 | |||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 233778772 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 99705371 | 3 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 1 | 70439117 | missense variant | G/T | snv | 0.28 | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 33171534 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.730 | 1.000 | 3 | 2008 | 2015 | ||||||||
|
0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.807 | 0.200 | 5 | 7897078 | missense variant | C/T | snv | 0.16 | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 15 | 90881744 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 |
|
0.840 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.030 | 0.667 | 3 | 2002 | 2011 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.727 | 22 | 2006 | 2019 | ||||||||
|
0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 |
|
0.030 | 0.667 | 3 | 2009 | 2018 | ||||||||
|
0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.929 | 14 | 2003 | 2019 |