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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.875 | 16 | 2001 | 2014 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.800 | 5 | 2006 | 2013 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1 | 10297069 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.080 | 1 | 68121775 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 1 | 224434068 | missense variant | C/T | snv | 1.5E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 209615169 | 3 prime UTR variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 1 | 212858540 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |