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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.474 | 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 | ||||||||
|
0.550 | 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 | |||||||
|
0.807 | 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 | |||||||||
|
0.882 | 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 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
8 | 38412508 | 3 prime UTR variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.080 | 12 | 52907235 | intron variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
17 | 7676113 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 |