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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 14 | 35405286 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 1 | 39899131 | intron variant | C/A | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | 21 | 31662579 | intron variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 3 | 14172913 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 4 | 83295215 | 3 prime UTR variant | C/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.120 | 11 | 1221460 | upstream gene variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.100 | 1.000 | 16 | 2011 | 2018 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.090 | 0.778 | 9 | 2011 | 2018 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.090 | 0.889 | 9 | 2011 | 2017 | ||||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
0.780 | 1.000 | 8 | 2011 | 2018 | ||||||||
|
0.752 | 0.160 | 20 | 773867 | intron variant | C/T | snv | 5.9E-02 |
|
0.040 | 0.750 | 4 | 2011 | 2017 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.040 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
0.030 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.030 | 0.667 | 3 | 2011 | 2017 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 |
|
0.020 | 1.000 | 2 | 2011 | 2016 |