| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 11 | 108306370 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 3 | 52408056 | missense variant | T/A;C | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 3 | 112463893 | downstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 8 | 90083245 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 11 | 69639167 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 11 | 69651347 | 3 prime UTR variant | C/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 1 | 109930334 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 1 | 109909068 | upstream gene variant | T/C | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 39832238 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 11 | 11967604 | intron variant | C/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.160 | 3 | 52394972 | synonymous variant | C/A | snv | 8.3E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |