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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 3 | 37007004 | missense variant | G/C | snv | 2.1E-04 | 1.9E-04 |
|
0.020 | 1.000 | 2 | 2004 | 2005 | |||||||
|
0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 14 | 75047123 | missense variant | T/C | snv | 1.1E-02 | 1.5E-02 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 5 | 112801313 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.851 | 0.120 | 3 | 9751845 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.980 | 51 | 2005 | 2020 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.980 | 51 | 2005 | 2020 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.538 | 13 | 2005 | 2015 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.080 | 0.750 | 8 | 2005 | 2016 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.080 | 1.000 | 8 | 2005 | 2016 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.070 | 1.000 | 7 | 2005 | 2010 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.070 | 1.000 | 7 | 2005 | 2010 | |||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.040 | 1.000 | 4 | 2005 | 2015 | |||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
0.040 | 0.750 | 4 | 2005 | 2008 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.040 | 0.750 | 4 | 2005 | 2008 | ||||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.030 | 1.000 | 3 | 2005 | 2012 | ||||||||
|
0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2005 | 2009 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
0.020 | 0.500 | 2 | 2005 | 2009 | |||||||||
|
0.925 | 0.080 | 1 | 241885371 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.120 | 1 | 241872080 | missense variant | C/T | snv | 0.11; 6.8E-05 | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |