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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 9 | 79515946 | non coding transcript exon variant | T/C | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 9 | 134443675 | downstream gene variant | G/A | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 7 | 106861053 | upstream gene variant | A/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 12 | 26319629 | non coding transcript exon variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 9 | 134442243 | downstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.120 | 9 | 79507370 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.763 | 0.200 | 2 | 54118332 | intron variant | C/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 2 | 54251980 | intron variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 1 | 230713085 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 3 | 148697390 | upstream gene variant | T/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 9 | 113391611 | missense variant | C/G | snv | 8.3E-02 | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 9 | 113391072 | intron variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
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 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 |