| 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 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 9 | 21971061 | missense variant | C/A;T | snv | 8.5E-05 | 3.7E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
22 | 20087052 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 8 | 42369287 | missense variant | C/G | snv | 1.1E-02 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.030 | 1.000 | 3 | 2004 | 2015 | |||||||
|
0.807 | 0.080 | 12 | 68839587 | missense variant | A/G | snv | 1.5E-04 | 5.1E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |