Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.030 | 1.000 | 3 | 1996 | 2014 | |||
|
3 | 0.925 | 0.080 | 7 | 44153324 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1998 | 1998 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.070 | 0.714 | 7 | 1999 | 2014 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.070 | 0.714 | 7 | 1999 | 2014 | |||
|
38 | 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 | ||||
|
4 | 0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 | 0.040 | 0.750 | 4 | 1999 | 2004 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 1999 | 2010 | ||||
|
3 | 0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 1999 | 2000 | |||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.020 | 1.000 | 2 | 1999 | 2016 | |||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
22 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1999 | 1999 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.100 | 0.813 | 32 | 2000 | 2014 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.813 | 32 | 2000 | 2019 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 0.800 | 15 | 2000 | 2019 | |||
|
8 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 0.090 | 1.000 | 9 | 2000 | 2016 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.070 | 0.857 | 7 | 2000 | 2018 | |||
|
3 | 0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 | 0.030 | 1.000 | 3 | 2000 | 2019 | |||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2015 | |||||
|
2 | 1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 | 0.020 | 1.000 | 2 | 2000 | 2002 | |||
|
14 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 1.000 | 0.040 | 5 | 134114958 | missense variant | G/A | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 1.000 | 0.040 | 12 | 120978923 | missense variant | G/C | snv | 2.0E-04 | 8.1E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 |