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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 7675109 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2004 | |||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.080 | 11 | 101128246 | synonymous variant | G/A | snv | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.040 | 7 | 93890271 | missense variant | C/T | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.020 | < 0.001 | 2 | 2004 | 2005 | |||||||
|
0.925 | 0.080 | 1 | 241885371 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 |
|
0.010 | < 0.001 | 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 | |||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 6 | 151944233 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 6 | 151944239 | missense variant | G/C | snv | 3.6E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
10 | 43119635 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 11 | 101128241 | missense variant | G/C;T | snv | 4.7E-06; 4.7E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | ||||||||
|
0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2007 |