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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.800 | 0.843 | 51 | 1995 | 2019 | |||||||
|
0.882 | 0.120 | 7 | 44146587 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.100 | 0.804 | 46 | 1997 | 2018 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.100 | 0.837 | 43 | 1997 | 2018 | |||||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.100 | 0.882 | 17 | 1997 | 2018 | ||||||||
|
0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.100 | 0.769 | 13 | 1997 | 2018 | ||||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
0.080 | 0.625 | 8 | 1997 | 2014 | |||||||
|
0.882 | 0.280 | 4 | 140567914 | missense variant | C/T | snv | 8.7E-02 | 7.7E-02 |
|
0.020 | 1.000 | 2 | 1997 | 2003 | |||||||
|
0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 1997 | 1997 | |||||||||
|
1.000 | 0.080 | 5 | 138467255 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.925 | 0.120 | 11 | 73975612 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 |
|
0.010 | < 0.001 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 1 | 65616036 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.120 | 2 | 25161569 | missense variant | C/T | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.120 | 2 | 25161244 | missense variant | T/C | snv | 5.4E-03 | 5.4E-03 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.100 | 0.850 | 20 | 1999 | 2018 | |||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.100 | 0.846 | 13 | 1999 | 2015 | ||||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.100 | 1.000 | 13 | 1999 | 2014 | |||||||
|
0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv |
|
0.040 | 0.750 | 4 | 1999 | 2013 | |||||||||
|
1.000 | 0.080 | 18 | 60371940 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.100 | 0.786 | 14 | 2000 | 2017 | |||||||
|
0.925 | 0.080 | 18 | 60372165 | missense variant | T/C | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 5 | 71719917 | missense variant | G/A;C | snv | 4.0E-06; 1.0E-03 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.100 | 0.903 | 31 | 2001 | 2018 | |||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.100 | 1.000 | 10 | 2001 | 2018 | |||||||
|
0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 |
|
0.080 | 1.000 | 8 | 2001 | 2019 |