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 | 83 | 2001 | 2018 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 81 | 2005 | 2019 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 80 | 2004 | 2020 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 78 | 2001 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 75 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 44 | 2007 | 2018 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.900 | 0.960 | 274 | 2005 | 2019 | ||||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.900 | 0.996 | 260 | 2005 | 2020 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.900 | 0.976 | 248 | 1996 | 2019 | |||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.900 | 0.936 | 218 | 2005 | 2019 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 190 | 2006 | 2020 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 160 | 2004 | 2020 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.900 | 0.953 | 149 | 2009 | 2020 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.900 | 0.902 | 122 | 1997 | 2018 | |||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.980 | 101 | 2005 | 2019 | |||||||
|
0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 |
|
0.900 | 0.980 | 99 | 1990 | 2020 | |||||||
|
0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 |
|
0.900 | 0.979 | 97 | 2006 | 2019 | |||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.900 | 0.989 | 88 | 1984 | 2019 | ||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.900 | 0.988 | 81 | 1997 | 2020 | ||||||||
|
0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 |
|
0.900 | 0.985 | 66 | 1992 | 2019 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.900 | 0.908 | 65 | 2006 | 2020 | |||||||||
|
0.851 | 0.240 | 13 | 51958333 | missense variant | C/A;T | snv | 1.4E-04; 3.2E-05 |
|
0.900 | 0.984 | 64 | 1995 | 2020 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 64 | 1998 | 2019 | ||||||||
|
0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv |
|
0.900 | 0.873 | 63 | 2008 | 2019 | |||||||||
|
0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 |
|
0.900 | 0.966 | 59 | 1990 | 2019 |