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 | |||||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2011 | ||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2004 | |||||||
|
0.827 | 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 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.876 | 89 | 2003 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.875 | 88 | 2003 | 2019 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.080 | 0.750 | 8 | 2003 | 2019 | |||||||||
|
0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2015 | ||||||||
|
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 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2011 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.020 | < 0.001 | 2 | 2004 | 2005 | |||||||
|
0.925 | 0.040 | 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 | ||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.020 | 1.000 | 2 | 2005 | 2014 | |||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.020 | 1.000 | 2 | 2005 | 2010 | |||||||
|
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 | ||||||||
|
0.925 | 0.080 | 1 | 241885371 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2005 | 2005 |