| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 2 | 47800966 | stop gained | G/A;C;T | snv |
|
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 | |||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 8 | 33498547 | missense variant | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.120 | 11 | 108267276 | missense variant | T/C | snv | 8.7E-03 | 8.5E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 7 | 55191861 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.080 | 10 | 102133102 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.120 | 9 | 87640345 | missense variant | T/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 7 | 92002488 | missense variant | T/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 11 | 69641374 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 19 | 10271190 | missense variant | C/G;T | snv | 8.1E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.200 | 10 | 129766957 | missense variant | C/T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 5 | 102458457 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.763 | 0.240 | 16 | 13932175 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
0.827 | 0.120 | 7 | 55019338 | missense variant | G/A;T | snv | 1.1E-04 |
|
0.020 | 1.000 | 2 | 2006 | 2007 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
1.000 | 0.080 | 10 | 94988980 | synonymous variant | A/T | snv | 6.3E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.160 | 10 | 17833714 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |