| 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 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 |
|
0.020 | 1.000 | 2 | 1995 | 2002 | |||||||
|
0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.050 | 1.000 | 5 | 1996 | 2018 | |||||||
|
0.925 | 0.080 | 7 | 44146584 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 7 | 44153324 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1998 | 1998 | ||||||||
|
11 | 5225612 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.100 | 0.842 | 38 | 1999 | 2018 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.100 | 0.842 | 38 | 1999 | 2019 | |||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.050 | 1.000 | 5 | 1999 | 2014 | ||||||||
|
0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 |
|
0.040 | 0.750 | 4 | 1999 | 2004 | ||||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.030 | 1.000 | 3 | 1999 | 2010 | ||||||||
|
0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 1999 | 2000 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.020 | 1.000 | 2 | 1999 | 2016 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 0.800 | 15 | 2000 | 2019 | |||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
0.090 | 1.000 | 9 | 2000 | 2016 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.080 | 0.875 | 8 | 2000 | 2018 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.040 | 0.750 | 4 | 2000 | 2013 | |||||||
|
0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 |
|
0.030 | 1.000 | 3 | 2000 | 2019 | |||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2000 | 2015 | |||||||||
|
1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 |
|
0.020 | 1.000 | 2 | 2000 | 2002 |