| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.030 | 0.333 | 3 | 2014 | 2019 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.020 | 0.500 | 2 | 2014 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2006 | 2018 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.020 | 1.000 | 2 | 2007 | 2013 | |||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 52221706 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
3 | 52222161 | missense variant | C/G;T | snv | 4.0E-06; 9.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 190970870 | intron variant | T/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |