| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.070 | 1.000 | 7 | 2004 | 2016 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.933 | 45 | 2002 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.050 | 0.800 | 5 | 2010 | 2018 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.909 | 11 | 2005 | 2013 | ||||||||
|
7 | 143268092 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.040 | 0.750 | 4 | 2012 | 2016 | |||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.030 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 2 | 202565733 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2020 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2006 | 2015 | |||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.060 | 1.000 | 6 | 2003 | 2019 | |||||||
|
0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |