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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 6 | 2001 | 2018 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 6 | 2001 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 0 | 2004 | 2020 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 0 | 2005 | 2019 | |||||||
|
0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 |
|
0.900 | 0.966 | 34 | 1990 | 2019 | |||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.900 | 1.000 | 23 | 1993 | 2016 | ||||||||
|
0.851 | 0.240 | 13 | 51958333 | missense variant | C/A;T | snv | 1.4E-04; 3.2E-05 |
|
0.900 | 0.984 | 23 | 1995 | 2020 | ||||||||
|
0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv |
|
0.900 | 1.000 | 23 | 1991 | 2019 | |||||||||
|
0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 |
|
0.900 | 1.000 | 23 | 1993 | 2019 | ||||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.900 | 0.989 | 22 | 1984 | 2019 | ||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.900 | 1.000 | 21 | 1999 | 2017 | |||||||||
|
0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.900 | 0.974 | 21 | 1993 | 2018 | ||||||||
|
0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 |
|
0.900 | 1.000 | 20 | 1998 | 2019 | ||||||||
|
0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 |
|
0.900 | 0.980 | 20 | 1990 | 2020 | |||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.900 | 0.977 | 18 | 1990 | 2020 | ||||||||
|
0.925 | 0.120 | 1 | 75761161 | missense variant | A/C;G | snv | 3.3E-03 |
|
0.900 | 1.000 | 16 | 1990 | 2020 | ||||||||
|
0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 |
|
0.900 | 0.985 | 14 | 1992 | 2019 | ||||||||
|
0.925 | 0.160 | 9 | 36217399 | missense variant | A/G | snv | 4.0E-05 | 7.0E-06 |
|
0.900 | 1.000 | 12 | 2001 | 2017 | |||||||
|
0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv |
|
0.900 | 1.000 | 11 | 1996 | 2015 | |||||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv |
|
0.900 | 1.000 | 11 | 1996 | 2012 | |||||||||
|
0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 |
|
0.900 | 1.000 | 11 | 1990 | 2019 | ||||||||
|
0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv |
|
0.900 | 0.979 | 11 | 1989 | 2019 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 10 | 2004 | 2020 | ||||||||
|
0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 |
|
0.900 | 1.000 | 10 | 1990 | 2019 | |||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.900 | 1.000 | 9 | 2005 | 2018 |